SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
← Browse populations
population

Population record

· 422 retained evidence mentions

Source-grounded findings

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
populationPopulation“Case presentation: The first patient, a 4-year-old girl born to consanguineous parents, presented with bilateral ptosis and fatigable weakness since infancy. The second patient, a 4-year-old boy born to non-consanguineous parents, presented with congenital bilateral ptosis and ophthalmoplegia without generalized weakness. The third patient, a 3-year-old girl born to non-consanguineous parents, presented with severe limb weakness requiring assistance in walking and performing daily activities with minimal ocular involvement, suggesting a diagnosis of LG-CMS.”0.80saudi_context_rules_v1
populationPopulation“We report the case of a two and a half years old boy born to consanguineous parents who presented with global developmental delay, poor weight gain, feeding difficulties, recurrent choking episodes, and multiple dysmorphic features. It also contributes to the AUTS2 syndrome phenotypic database by adding a patient from a previously under-represented ethnic and geographical background, by documenting an autosomal dominant variant identified within a consanguineous pedigree, and by drawing attention to a constellation of co-occurring hypospadias, unilateral cryptorchidism, and adenotonsillar hypertrophy requiring surgery, which appears infrequently reported in the existing AUTS2 literature.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND: Neurofibromatosis-type 1 (NF1) is a genetic disorder characterized by developing optic pathway gliomas (OPGs) in 15%-20% of patients with higher estimates where consanguinity is prevalent.”0.80saudi_context_rules_v1
populationPopulation“CASE PRESENTATION: A female neonate born to consanguineous parents presented on day 5 of life with fever and profound pancytopenia.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND: This study examined a consanguineous family affected by autosomal recessive Sjögren-Larsson syndrome (SLS) that is characterized by congenital ichthyosis, intellectual disabilities, and spastic diplegia.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND: Phenylketonuria (PKU), the inherited metabolic autosomal recessive disorder, is a prevalent disorder in Arabic countries (1 in 6000 babies are affected by this disorder) due to the high prevalence of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Through exome sequencing, we identified seven distinct homozygous loss-of-function variants in MDGA2 in nine individuals from seven consanguineous families, all presenting with developmental and epileptic encephalopathy (DEE).”0.80saudi_context_rules_v1
populationPopulation“The global prevalence is estimated to be 1 in 300,000, although rates vary regionally with genetic mutation patterns and consanguinity.”0.80saudi_context_rules_v1
populationPopulation“To our knowledge, this is among the first reported cases of single-locus STR informativity complicating post-HSCT chimerism analysis in a pediatric FA patient from a consanguineous population. In populations with high consanguinity, this case demonstrates a rare but actionable limitation of standard STR-based chimerism monitoring in non-twin siblings.”0.80saudi_context_rules_v1
populationPopulation“Herein, we report a novel homozygous missense variant in HAPLN1 in four individuals from an extended consanguineous Kuwaiti family, co-segregating with a skeletal dysplasia phenotype.”0.80saudi_context_rules_v1
populationPopulation“Family history was significant for consanguinity between parents and a healthy 4-year-old younger male sibling.”0.80saudi_context_rules_v1
populationPopulation“Two patients born to consanguineous parents exhibited impaired sperm motility.”0.80saudi_context_rules_v1
populationPopulation“Here, we report a 5-year-old boy from a consanguineous family presenting with multiple vertebral segmentation defects, developmental delay and intellectual and speech impairment.”0.80saudi_context_rules_v1
populationPopulation“CASE REPORT We report the case of a preterm neonate born to consanguineous parents who developed day-1-onset bicytopenia with transfusion-dependent thrombocytopenia and intermittent normocytic anemia.”0.80saudi_context_rules_v1
populationPopulation“Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disease more common in populations with high consanguinity.”0.80saudi_context_rules_v1
populationPopulation“The current study involved clinical evaluation and exome sequencing, aimed at identifying the causative variants in four unrelated consanguineous Pakistani families presenting AI phenotypes.”0.80saudi_context_rules_v1
populationPopulation“Case Presentation: A seven-year-old boy from a consanguineous family was referred for chronic wet cough and "uncontrolled asthma" despite being prescribed high-dose inhaled corticosteroids and montelukast.”0.80saudi_context_rules_v1
populationPopulation“This study describes a rare case of co-occurrence of RE, systemic lupus erythematosus (SLE), and type 1 diabetes mellitus (DM), with emphasis on the autoimmune theory of RE in a patient with a strong family history of autoimmune disease and family consanguinity.”0.80saudi_context_rules_v1
populationPopulation“The risks of developing these mutations also correlated with the prevalence of consanguinity, a common practice in certain populations. CONCLUSION: There is an urgent need for enhanced pre-vaccination screening for genetic and immunologic vulnerabilities in infants at hight risk for BCGosis, particularly in populations with high consanguinity rates.”0.80saudi_context_rules_v1
populationPopulation“This case expands the known clinical phenotype of WEDAS, emphasizing the importance of early recognition, genetic testing, and a multidisciplinary approach to care for affected individuals, particularly in consanguineous populations where the syndrome may be underdiagnosed. Early recognition and genetic testing are essential for accurate diagnosis, especially in patients from consanguineous backgrounds presenting with multiple pituitary hormone deficiencies.”0.80saudi_context_rules_v1
populationPopulation“Methods: We investigated five affected children from three sibships of an extended consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“CASE PRESENTATION: A 2-month-old female infant, born to consanguineous parents with intrauterine limb hypoplasia, sustained a clavicular fracture on day one.”0.80saudi_context_rules_v1
populationPopulation“CASE REPORT We report a 20-month-old boy, born to consanguineous parents, who initially received a misdiagnosis of galactosemia following abnormal newborn screening.”0.80saudi_context_rules_v1
populationPopulation“The patient reported consanguinity within the family.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Two unrelated consanguineous Pakistani families with severe ONH, showing features of micropthalmia, nystagmus, corneal opacity, and keratopathy were included.”0.80saudi_context_rules_v1
populationPopulation“Although her parents were consanguineous, next-generation sequencing of a targeted but comprehensive lipodystrophy gene panel was negative. Given the distinct but unusual phenotype (multiple autoimmune diseases associated with generalized lipodystrophy in the absence of hypoleptinemia) and parental consanguinity, despite negative targeted gene sequencing, our patient's AGL may have been due to a novel, autosomal recessive genetic variant.”0.80saudi_context_rules_v1
populationPopulation“Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes. This study investigates the genetic basis of retinal diseases in four consanguineous families from Pakistan, focusing on mutations in the CNGA3, CACNA1F, and RPGRIP1 genes that are implicated in retinal dysfunctions such as achromatopsia, congenital stationary night blindness, and retinal dystrophies.”0.80saudi_context_rules_v1
populationPopulation“All subjects were born to consanguineous parents and exhibited symptoms between birth and four months of age.”0.80saudi_context_rules_v1
populationPopulation“Although the specific causes of EIEE remain unknown, one of the primary causes is gene pathogenicity (even in the absence of consanguinity).”0.80saudi_context_rules_v1
populationPopulation“Globally, it affects 1-3% of the general population, with an increased prevalence in consanguineous families. AIMS AND OBJECTIVES: This study examined a consanguineous family to identify disease-associated pathogenic mutations and elucidate their potential functional impact in patients with IDDRP.”0.80saudi_context_rules_v1
populationPopulation“CONCLUSION: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family. Although the disease is clinically and genetically complex, the chances of identifying deafness-causing loci increase when studying consanguineous families. METHODS: Whole-exome sequencing was performed to identify genetic variants underlying sensorineural hearing loss in affected individuals from a family with third-degree consanguineous practices. CONCLUSIONS: This study highlighted the genetic heterogeneity of hearing loss in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“PATIENT CONCERNS: We report a male, full-term infant born to consanguineous Yemeni parents with no family history of genetic disorders.”0.80saudi_context_rules_v1
populationPopulation“Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis.”0.80saudi_context_rules_v1
populationPopulation“Mutational analysis of consanguineous families and their targeted therapy against dwarfism. In this research, we examined four (A-D) Pakistani consanguineous families that exhibited syndromic dwarfism, which was inherited in an autosomal recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“This case underscores the importance of neuroradiologic assessment in the diagnosis of rare leukodystrophies, especially in consanguineous populations.”0.80saudi_context_rules_v1
populationPopulation“Through international genetic data sharing, we identified the first ultra-rare biallelic LGI1 variants in six individuals from four consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to consanguinity. Thematic data analysis identified that higher levels of consanguinity and stoic nature of the people are unique cultural considerations in the region.”0.80saudi_context_rules_v1
populationPopulation“FINDINGS: We identified three individuals from three families (two are consanguineous) in whom a neurodevelopmental disorder (NDD) is linked to biallelic variants in SLK.”0.80saudi_context_rules_v1
populationPopulation“Genetic Studies on Multiple Consanguineous Families Segregating Diverse Phenotypes of Microphthalmia Identified Novel and Recurrent Mutations. AIMS AND OBJECTIVES: This study examined two consanguineous A/M families to identify disease-associated pathogenic mutations and predict their functional impact.”0.80saudi_context_rules_v1
populationPopulation“Correspondence on "Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort" by Akter et al.”0.80saudi_context_rules_v1
populationPopulation“Editorial: Consanguinity and rare genetic neurological diseases.”0.80saudi_context_rules_v1
populationPopulation“The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity rates.”0.80saudi_context_rules_v1
populationPopulation“Hypospadias, a common congenital anomaly of male genitalia, shows significant heritability and familial recurrence, particularly in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Here, we present a consanguineous family suffering from autosomal recessive non-syndromic profound hearing impairment (HI).”0.80saudi_context_rules_v1
populationPopulation“Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family. METHODS: This study investigated a consanguineous Pakistani family with multiple affected individuals.”0.80saudi_context_rules_v1
populationPopulation“CASE REPORT: We present a 10-month-old female infant born to consanguineous parents with a significant medical history of chronic cough, cyanosis, failure to thrive, poor feeding, and irritability who ultimately required multiple hospitalizations for severe infections requiring mechanical ventilation and intravenous antibiotics.”0.80saudi_context_rules_v1
populationPopulation“Seventy-six (71.7 %) of the patients were from consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Among the risk factors examined, consanguinity was significantly associated with the presence of hearing loss.”0.80saudi_context_rules_v1
populationPopulation“Born to non-consanguineous parents, her early developmental milestones were typical.”0.80saudi_context_rules_v1
populationPopulation“Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.”0.80saudi_context_rules_v1
populationPopulation“In this study, we investigated a consanguineous four-generation family with two individuals displaying the RDEB phenotype.”0.80saudi_context_rules_v1
populationPopulation“This study aims to identify the carrier genetic status of couples experiencing or anticipating conception challenges through NGS-based ECS and to gain an overview of the rare genetic disorders in a population with increased consanguinity. Consanguinity was reported in 14 couples (46.67%).”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“CONCLUSIONS: The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions - chiefly due to consanguinity.”0.80saudi_context_rules_v1
populationPopulation“METHODS: In the present study, a clinical and genetic analysis was performed of six patients with anophthalmia and microphthalmia and/or additional phenotypes of intellectual disability, developmental delay and cerebral palsy from a large consanguineous Pakistani family.”0.80saudi_context_rules_v1
populationPopulation“Here, we delineate the condition further by describing the phenotype associated with a homozygous frameshift variant (p.Arg330 ProfsTer76) in PPP1R13L detected in two sibships in a consanguineous family with six affected children.”0.80saudi_context_rules_v1
populationPopulation“Dental professionals must ensure patient safety through adequate knowledge, proper nutrition and glucose management, as well as genetic counseling in cases of consanguineous marriages.”0.80saudi_context_rules_v1
populationPopulation“We identified three consanguineous families with both obstructive hydrocephalus and Dandy-Walker malformation.”0.80saudi_context_rules_v1
populationPopulation“INTRODUCTION: Inborn errors of immunity (IEI) are disorders that present a health issue, especially in developing countries where there is a high rate of consanguineous marriages and an increasing rate of diagnosis.”0.80saudi_context_rules_v1
populationPopulation“Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.”0.80saudi_context_rules_v1
populationPopulation“The impact of consanguinity on the design of iPSC banks. The effect of consanguinity on identifying universal induced pluripotent stem cell (iPSC) donors, i.e., homozygous for the major human leukocyte antigen (HLA) loci, is unknown. The discovery sample size was calculated in a consanguineous population using a method (1qF) based on the inbreeding coefficient.”0.80saudi_context_rules_v1
populationPopulation“Awareness of consanguineous marriage burden and willingness towards premarital genetic testing in Sudan: a national cross-sectional study. BACKGROUND: Despite the widespread practice of consanguinity in Sudan, there is a lack of exploration into the community's awareness of its health implications on offspring and their overall attitude towards consanguineous unions. AIM: This study aimed to evaluate the community's awareness of the possible health adversities of consanguinity on children and assess the effect of knowledge level on the prevailing attitude towards this practice in Sudan. RESULTS: This study revealed a consanguinity rate of 30.2%. Despite a high awareness level (73.7%) regarding the effects of consanguineous marriage on the health of the offspring, a moderately negative attitude towards this practice (63.9%) was observed. CONCLUSION: The discordance between the high consanguinity rate in the Sudanese population and the moderately negative attitude suggests a potential persistence of this practice in the future. Without the implementation of educational programs and the provision of genetic counselling services to consanguineous couples, the prevalence of consanguinity is likely to endure.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe two multiplex consanguineous families, each segregating a different homozygous likely loss of function variant in ABL1.”0.80saudi_context_rules_v1
populationPopulation“In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy.”0.80saudi_context_rules_v1
populationPopulation“To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each harboring a novel homozygous variant of HCRT c.17_18del.”0.80saudi_context_rules_v1
populationPopulation“We characterized a recessive neurological disorder observed in nine young adults from five independent consanguineous Pakistani families.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriages increase the incidence of recurrent tuberculosis: Evidence from whole exome sequencing. BACKGROUND: In this study, we have identified multiple mutations in the IL-12R1 gene among Pakistani patients who have inherited them through consanguineous marriages. Among Pakistani patients born to consanguineous marriages, the identified mutations in the IL-12Rβ-1 gene provide insights into the genetic basis of severe BCG infections and recurrent tuberculosis.”0.80saudi_context_rules_v1
populationPopulation“Moreover, none of the participants had SCDs, although their parents had a consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life.”0.80saudi_context_rules_v1
populationPopulation“A cleft palate is usually seen in children born to their parents through consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We describe here three children from a consanguineous family who presented with nystagmus, developmental delay and ataxia, photosensitive skin manifestations, and adrenal insufficiency.”0.80saudi_context_rules_v1
populationPopulation“We estimated that autozygosity due to consanguinity accounts for 5%-18% of T2D cases among British Pakistanis. Our work highlights the possibility of widespread non-additive genetic effects on common diseases and has important implications for global populations with high rates of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Whole blood was obtained from four consanguineous families with CC. In conclusion, a previously reported nonsense mutation was identified in four consanguineous families with CC.”0.80saudi_context_rules_v1
populationPopulation“Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes. METHODS: The present study describes two consanguineous families with a total of seven affected individuals suffering from a clinically similar severe syndromic neurological disorder, with abnormal development and central nervous system (CNS) and peripheral nervous system (PNS) abnormalities. CONCLUSIONS: In the present study, two novel biallelic variants in the CNTNAP1 and ADGRG1 genes in two different consanguineous families with a clinical overlap in the phenotype were identified.”0.80saudi_context_rules_v1
populationPopulation“RESULT: Two siblings born to consanguineous parents developed parkinsonism at the age of 58 and 60 years, respectively.”0.80saudi_context_rules_v1
populationPopulation“A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family. (1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461). Pathogenic variants in the gene have been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dysplasia. (2) Methods: In the present study, large consanguineous families with five affected individuals with osteochondrodysplasia phenotypes were recruited.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVES: An extended Pakistani family having two affected siblings born of unaffected consanguineous union was included in the study.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Here we studied a female index patient, born to a consanguineous Pakistani couple, showing clinical symptoms of ID, ataxia, hypotonia, developmental delay, seizures, speech abnormality, and aggressive behavior.”0.80saudi_context_rules_v1
populationPopulation“Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene.”0.80saudi_context_rules_v1
populationPopulation“Genetic Insights from Consanguineous Cardiomyopathy Families. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants.”0.80saudi_context_rules_v1
populationPopulation“Methods: In this study, two Pakhtun consanguineous families, ALB-09 and ALB-10, were enrolled for clinical and molecular diagnoses.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We identified a multiplex consanguineous family with a homozygous truncating variant p.Val1101Ter in MAN2A2.”0.80saudi_context_rules_v1
populationPopulation“Herein, we describe a single affected individual from a consanguineous family segregating a recessive neurodevelopmental disorder.”0.80saudi_context_rules_v1
populationPopulation“Here, we report a consanguineous family in which the index patient presented with OCA and Hirschsprung disease but tested negative for known genetic causes of OCA.”0.80saudi_context_rules_v1
populationPopulation“Finally, a molecular autopsy by proxy in a consanguineous couple that lost two babies due to lung hypoplasia revealed that both parents carry the p.(Arg98*) variant.”0.80saudi_context_rules_v1
populationPopulation“Methodology and Materials: This study investigated a large consanguineous family with multiple individuals suffering from abnormal fatigue and muscle weakness in the ocular and limb regions.”0.80saudi_context_rules_v1
populationPopulation“METHODS: In the current study, a consanguineous Pakistani family consisting of a proband (IV-2) was clinically evaluated and genetically analyzed manifesting in severe neurodevelopmental phenotypes.”0.80saudi_context_rules_v1
populationPopulation“Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy. METHODS: We recruited eight consanguineous families from Pakistan which segregated recessively inherited NDD with epilepsy. The high success rate of exome sequencing is likely attributable to the expectation of homozygous variants in patients of consanguineous families, and in one case, the availability of positional mapping data that greatly aided the variant prioritization.”0.80saudi_context_rules_v1
populationPopulation“Material and methods: Surgical hypospadias repair was performed on two hypospadias-affected siblings from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“A Loss-of-function variant in ZNF808 is associated with non-syndromic neonatal diabetes in a consanguineous family with three affected siblings.”0.80saudi_context_rules_v1
populationPopulation“ConsCal: A tool to aid medical genetics professionals in consanguineous populations. Consanguineous populations have a higher frequency of autosomal recessive diseases when compared to the rest of the world. Consanguinity causes the appearance of many homozygous variants due to the identity by descent phenomenon. Furthermore, the complexity of calculating the segregation power increases with the level of inbreeding, and in the case of consanguineous families, their pedigrees tend to be very complex. With the aim of addressing these two challenges using a mathematical algorithm, ConsCal, a tool made to specifically cater to medical genetics professionals working with consanguineous populations, was developed. As the use of genomics becomes more widespread, this tool can help address the growing need in calculating recurrence risk and segregation power in consanguineous populations.”0.80saudi_context_rules_v1
populationPopulation“It is an autosomal recessive type of familial disease that is commonly associated with a history of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: Four individuals from a consanguineous family affected with PDE10A mutations were observed for up to 40 years.”0.80saudi_context_rules_v1
populationPopulation“We report two consanguineous families with congenital ichthyosis.”0.80saudi_context_rules_v1
populationPopulation“Additionally, our data suggest that TB patients in Pakistan should be investigated for potential genetic defects due to high prevalence of parental consanguinity and increased incidence of TB in the country.”0.80saudi_context_rules_v1
populationPopulation“In a consanguineous family, we uncovered a homozygous p.Thr543Met variant segregating with a neonatal lethal syndrome with cutaneous, craniofacial, cardiac, and limb anomalies.”0.80saudi_context_rules_v1
populationPopulation“Materials and Methods: In the current study, a consanguineous Pakistani family with three individuals showing clinical manifestations of cyanosis, chest pain radiating to the left arm, dyspnea, orthopnea, and hemoptysis was studied.”0.80saudi_context_rules_v1
populationPopulation“Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity. Machine learning based models for predicting the degree of patrilineal consanguinity yielded accurate and reasonably precise predictions when using RM Y-STRs.”0.80saudi_context_rules_v1
populationPopulation“Our study presents the novel copy number variations in a cohort of five multiplex consanguineous families with intellectual disability, microcephaly, ASD, epilepsy, and neurological syndromic features. Identification of altered gene dosage across the genome is helpful in improved diagnosis, better disease management in day-to-day life activities of patients with cognitive impairment and genetic counselling of families where consanguinity is a tradition.”0.80saudi_context_rules_v1
populationPopulation“Hydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature. There is a deficit in the literature as to whether the development of HMC in a neonate of consanguineous parents is an isolated finding or solely related to an underlying syndrome. We hope to help bridge this gap by reporting a case of a 12-day-old neonate presenting with hydrometrocolpos and polydactyly, born to consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“In the present study, we recruited a consanguineous Pakistani family showing an autosomal recessive mode of inheritance. The exome sequencing identified a homozygous splice site variant in ARMC3 (Armadillo Repeat Containing 3) in a consanguineous Pashtun family of Pakistani origin as the underlying genetic cause of non-syndromic stuttering.”0.80saudi_context_rules_v1
populationPopulation“We aim to describe the clinical course including the renal and the pregnancy outcomes, describe the consanguinity and family history, and try to explain the potential effect of one disease on the clinical course of the other.”0.80saudi_context_rules_v1
populationPopulation“Importantly, such detection strategies would allow the screening of pregnant women for common AR diseases, especially in highly consanguineous marriage populations.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVE: Given the genetic disease burden, family size, and the high consanguinity rates in the Middle East, our objective is to address current practices and challenges of DMD patient care within two countries in this region, namely the United Arab Emirates and Kuwait, and to outline readiness for gene therapy.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriage was a risk factor for likely giving children affected with hemoglobinopathies.”0.80saudi_context_rules_v1
populationPopulation“Here, we investigated a consanguineous family having two neonates with a clinical phenotype of lethal infantile NPHP associated with asphyxiating thoracic dystrophy.”0.80saudi_context_rules_v1
populationPopulation“Molecular studies identified seven genes linked to the OCA phenotype (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10orf11, and DCT) and one locus (OCA5) in consanguineous and sporadic albinism. In the Pakistani population, autosomal recessive non-syndromic OCA is common and is associated with a large number of consanguineous families, and mutations in genes of non-syndromic types are reported.”0.80saudi_context_rules_v1
populationPopulation“However, the infection was determined to be postnatally acquired and hearing loss most likely from genetic causes given a family history of hearing loss and consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe a patient with hyperekplexia from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“In the present study, we recruited a large consanguineous family segregating a neurodevelopmental disorder in an autosomal recessive form.”0.80saudi_context_rules_v1
populationPopulation“Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. In conclusion, we identified a new likely pathogenic missense variant in PSAP in a large consanguineous Pakistani family with atypical Gaucher disease.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity was present in nine patients (82%).”0.80saudi_context_rules_v1
populationPopulation“Eight consanguineous families were recruited, and clinical and ophthalmological examination was carried out to diagnose the disease.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analyses were used to identify gene variants responsible for syndromic ID with autistic features in two independent consanguineous families from the Arabian Peninsula.”0.80saudi_context_rules_v1
populationPopulation“AIM: To investigate the clinical and genetic basis of autosomal recessive hypertrichosis in a large consanguineous Pakistani family.”0.80saudi_context_rules_v1
populationPopulation“Homozygosity mapping detected several LOH regions due to extensive consanguinity.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVES: To identify the causal gene in a consanguineous family with three siblings affected by a complex persistent generalized dystonia, generalized epilepsy, and mild intellectual disability.”0.80saudi_context_rules_v1
populationPopulation“We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy.”0.80saudi_context_rules_v1
populationPopulation“Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family. METHOD: Here, we reported a large consanguineous pedigree with multiple affected individuals with Woodhouse-Sakati syndrome phenotypes.”0.80saudi_context_rules_v1
populationPopulation“Here, we investigated a two-looped consanguineous family segregating severe ID, seizure, and progressive microcephaly.”0.80saudi_context_rules_v1
populationPopulation“Y chromosomal STRs, being normally utilized in the field of forensics, exhibit low haplotype diversity in consanguineous populations and fail to discriminate among male relatives from the same pedigree.”0.80saudi_context_rules_v1
populationPopulation“In this study, we investigated a consanguineous Pakhtun Pakistani family.”0.80saudi_context_rules_v1
populationPopulation“DeepSVP significantly improves the success rate of finding causative variants in several benchmarks and can identify novel pathogenic structural variants in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Here, we report a consanguineous family in which two children with MRT71-compatible phenotype are homozygous for a novel missense variant in the methyltransferase domain.”0.80saudi_context_rules_v1
populationPopulation“Here, we report a consanguineous family in which adult females who are homozygous for a truncating variant in ASTL display markedly reduced fertility in a pattern strikingly similar to Astl-/- female mice.”0.80saudi_context_rules_v1
populationPopulation“Background and Objective: Despite that inherited (thalassemia and SCA) and infectious (hepatitis B, hepatitis C and AIDs) diseases and their risk factor consanguineous marriage are widespread among Yemen population, community-based awareness studies towards premarital screening (PMS) is extremely limited, so our study is designed to elicit knowledge and attitude of engaged and recently married couples in Taiz (Yemen) toward PMS.”0.80saudi_context_rules_v1
populationPopulation“This late preterm (35 weeks of gestation) neonate born to parents of consanguineous marriage following a pregnancy complicated by polyhydramnios was symmetrically small for date at birth (<3rd centile for weight, length, and occipitofrontal circumference).”0.80saudi_context_rules_v1
populationPopulation“Consanguinity was present in 59% of the cohort.”0.80saudi_context_rules_v1
populationPopulation“In the current study, two affected individuals of a consanguineous family exhibiting autosomal recessive nonsyndromic hearing impairment (AR-NSHI) were clinically and genetically characterized.”0.80saudi_context_rules_v1
populationPopulation“Detection of renal anomalies using antenatal and postnatal ultrasound: The consanguinity factor. The aim of this study to compare discrepancy between antenatal and postnatal US diagnosis of congenital anomalies of the kidney and urinary tract (CAKUT) and to evaluate the incidence of parent's consanguinity among those patients at King Abdulaziz Medical City - Western Region (KAMC-WR), as it may help changing the current practiced guidelines and applied protocols. Added to that, 41% of the fetuses were product of consanguineous marriage and 11% had a history of other child with renal anomalies. CONCLUSION: There is a significant association between children with CAKUT and parents' consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene-editing debate. A hypothetical pedigree that illustrates the 100% recurrence risk scenario in a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity was high and represented 37.7% (95% CI: 29.3-46.6).”0.80saudi_context_rules_v1
populationPopulation“Identification of Offspring Donors in Regions of High Consanguinity: New Prospects for Donor Procurement.”0.80saudi_context_rules_v1
populationPopulation“Methods: We studied four patients from two unrelated consanguineous Sudanese families who manifested a neurological phenotype characterized by spasticity, psychomotor developmental delay and/or regression, and intellectual impairment.”0.80saudi_context_rules_v1
populationPopulation“Seizures caused by underlying metabolic diseases (metabolic seizures) should be particularly considered in unexplained neonatal seizures, refractory seizures, seizures related to fasting or food intake, seizures associated with other systemic or neurologic features, parental consanguinity, and family history of epilepsy.”0.80saudi_context_rules_v1
populationPopulation“In this study, we report homozygous premature truncating LTBP1 variants in eight affected individuals from four unrelated consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Here, we studied two siblings from a consanguineous Syrian family, presenting with muscle weakness, hyperlaxity, elastic skin, tooth abnormalities, dysmorphic facies, hypoplastic patellae and history of respiratory infections.”0.80saudi_context_rules_v1
populationPopulation“We report three new patients with HGPPS2 in a consanguineous Pakistani family, presenting varying degrees of progressive scoliosis, developmental delays, horizontal gaze palsy, agenesis of corpus callosum, and absence of cerebral commissures.”0.80saudi_context_rules_v1
populationPopulation“We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree.”0.80saudi_context_rules_v1
populationPopulation“In this context, studying Arab population presents an ideal opportunity to discover the novel molecular basis of diseases owing to the high rate of consanguinity and genetic disorders.”0.80saudi_context_rules_v1
populationPopulation“In this study, we report a large consanguineous Emirati family with severe to profound hearing loss fully segregating the GJB2 missense mutation p.Cys169Tyr.”0.80saudi_context_rules_v1
populationPopulation“Combined autozygome/exome analysis was performed in two unrelated consanguineous families with ID.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Two different NAA20 variants were identified in affected individuals in two consanguineous families by exome and genome sequencing.”0.80saudi_context_rules_v1
populationPopulation“We describe a consanguineous Iraqi family harboring an 88.5 kb homozygous deletion including SLC13A5 in Chr17p13.1.”0.80saudi_context_rules_v1
populationPopulation“In a highly consanguineous pedigree with novel mutations in G6PC3 and MPL, we performed comprehensive multi-omics analyses.”0.80saudi_context_rules_v1
populationPopulation“This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.”0.80saudi_context_rules_v1
populationPopulation“CASE DESCRIPTION: We report a case of homozygous DNAJC3 mutation in two siblings of a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“Using exome sequencing and Sanger segregation analysis, here, two novel homozygous WIPI2 variants [c.551T>G; p.(Val184Gly) and c.724C>T; p.(Arg242Trp) (NM_015610.4)] were identified in four individuals of two consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“We identified that affected members of a consanguineous Middle Eastern ALS kindred possessed a novel homozygous p.S174X OPTN mutation.”0.80saudi_context_rules_v1
populationPopulation“We report four individuals from two unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B.”0.80saudi_context_rules_v1
populationPopulation“An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. We investigated five patients from two unrelated consanguineous Sudanese families with an inherited severe neurodevelopmental disorder using whole-exome sequencing coupled with homozygosity mapping, segregation, and haplotype analysis.”0.80saudi_context_rules_v1
populationPopulation“The large consanguineous family confirms the phenotype-causative relationship with homozygous frameshift variant (NM_004713.6:c.2618del) as revealed by ES.”0.80saudi_context_rules_v1
populationPopulation“Here, we report a consanguineous family with four affected children with SSS. Our report describes the phenotype of a novel homozygous SCN5A variant and contributes to the compendium of molecular pathology of inherited arrhythmias in consanguineous populations.”0.80saudi_context_rules_v1
populationPopulation“SUMMARY: The hot arid climate in North Africa and the tropical climate in most of sub-Saharan Africa, and the high rate of consanguinity, sickle cell disease and HIV drive the spectrum of paediatric kidney diseases in the continent.”0.80saudi_context_rules_v1
populationPopulation“The most frequently identified risk factors were parental consanguinity, family history of epilepsy, and a history of perinatal infections/insults. The most frequently reported risk factor is parental consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriage is the most prevalent social custom that leads to an increased prevalence of congenital anomalies. The results showed that 76.6% of the study participants had consanguineous marriage between their parents, 64.1% had a history of hereditary deafness in first-degree relatives.”0.80saudi_context_rules_v1
populationPopulation“Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“The majority of mothers did not identify family history as a risk factor; consanguinity was identified in 29% (n = 42).”0.80saudi_context_rules_v1
populationPopulation“2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.”0.80saudi_context_rules_v1
populationPopulation“Our case is unique because of the late occurrence of this eyelid skin hemangioma, the concomitant CLE, the history of hyperthyroidism, and the positive family history of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“There is a high incidence of consanguineous marriages in our area, so we believe that A-T may have higher incidence.”0.80saudi_context_rules_v1
populationPopulation“Here we report on two siblings, originating from a consanguineous family, who presented with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment.”0.80saudi_context_rules_v1
populationPopulation“Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner.”0.80saudi_context_rules_v1
populationPopulation“The prevalence of MVID is thought to be higher in countries with a high degree of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Founder mutations and autosomal recessive (AR) disorders are common in the Arabian Peninsula due to frequent consanguineous marriages.”0.80saudi_context_rules_v1
populationPopulation“The incidence of CMMRD is expected to be high in low-resource settings due to a high rate of consanguinity in these regions, and it is thought to be underrecognized and consequently underdiagnosed.”0.80saudi_context_rules_v1
populationPopulation“Here, we present five consanguineous families segregating OI in an autosomal recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth.”0.80saudi_context_rules_v1
populationPopulation“METHODS: We collected a large consanguineous family having four affected individuals segregating progressive spastic ataxia in an autosomal recessive manner.”0.80saudi_context_rules_v1
populationPopulation“We chose to study ADHD families (including multi-incident) from a population with a high rate of consanguinity in which genetic risk factors tend to accumulate and therefore increasing the chance of detecting risk alleles.”0.80saudi_context_rules_v1
populationPopulation“The patient, born to non-consanguineous parents of East African origin, was admitted at two weeks of age for failure to thrive.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe a multiplex consanguineous family from Oman in which multiple affected members display a remarkably consistent phenotype of neuroregression with profound brain white matter loss.”0.80saudi_context_rules_v1
populationPopulation“By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu).”0.80saudi_context_rules_v1
populationPopulation“All were born to consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of Pakistani origin.”0.80saudi_context_rules_v1
populationPopulation“We report an extended multiplex consanguineous family in which an EK phenotype with a striking similarity to that observed in Perp-/- mice, is mapped to an autozygous region on chromosome 6 that spans PERP.”0.80saudi_context_rules_v1
populationPopulation“Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. METHODS: Whole exome sequencing (WES) analysis on one sample derived from a consanguineous family was performed.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe four consanguineous families with four different likely deleterious homozygous variants in SMG8, encoding a binding partner of SMG9.”0.80saudi_context_rules_v1
populationPopulation“The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. METHODS: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted. CONCLUSIONS: Our work demonstrates the impact of consanguinity on the genetics of childhood-onset cardiomyopathy, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes.”0.80saudi_context_rules_v1
populationPopulation“Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members.”0.80saudi_context_rules_v1
populationPopulation“The aim of this study was to identify the underlying cause of three consanguineous Pakistani families showing various types of SHFM-related features.”0.80saudi_context_rules_v1
populationPopulation“Solo VS extended family analysis in consanguineous populations. Trio-based analysis was a better approach than sibship testing, even in a consanguineous population.”0.80saudi_context_rules_v1
populationPopulation“We report a consanguineous family with PM, intellectual disability and short stature.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Eight children from four consanguineous families residing in distinct geographies within the Middle East and Central Asia were recruited for study.”0.80saudi_context_rules_v1
populationPopulation“In this report, we describe one child of a consanguineous family who presented with distinct clinical features including global developmental delay, axial hypotonia, bilateral undescended testis, and subtle dysmorphic features.”0.80saudi_context_rules_v1
populationPopulation“Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world.”0.80saudi_context_rules_v1
populationPopulation“METHODS: We report a seven-years-old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth.”0.80saudi_context_rules_v1
populationPopulation“Family history was negative for congenital glaucoma and both parents are healthy and non-consanguineous.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: All patients were born from consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“The aim of this work is to investigate the causative mutation in a consanguineous Tunisian family with a clinical feature of CIE with a yellowish severe palmoplantar keratoderma.”0.80saudi_context_rules_v1
populationPopulation“Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age.”0.80saudi_context_rules_v1
populationPopulation“The majority (93.6%) have parental history of consanguinity and around one third (31.9%) have family history of bleeding disorder.”0.80saudi_context_rules_v1
populationPopulation“Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance.”0.80saudi_context_rules_v1
populationPopulation“We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symptoms, including mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities.”0.80saudi_context_rules_v1
populationPopulation“We report a patient with WRS born to a consanguineous marriage due to a novel biallelic frameshift mutation in the EIF2AK3 gene. CASE PRESENTATION: Our patient was a 2-year-and-6-month-old Yemeni girl born to consanguineous parents who was diagnosed with neonatal diabetes at 20 days of age. CONCLUSIONS: Wolcott-Rallison syndrome is recognized as the most common cause of early-onset diabetes in infants born to consanguineous marriages.”0.80saudi_context_rules_v1
populationPopulation“In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing. We subsequently identified a third Arab consanguineous multiplex family in which the phenotype of Joubert syndrome/oral-facial-digital syndrome (OFD VI) was found to co-segregate with the same founder variant in FAM149B1. Independently, autozygosity mapping and exome sequencing in a consanguineous Turkish family with Joubert syndrome highlighted a different homozygous truncating variant in the same gene.”0.80saudi_context_rules_v1
populationPopulation“We investigated seven consanguineous XP families with nine patients from Pakistan.”0.80saudi_context_rules_v1
populationPopulation“UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. OBJECTIVE: To determine the underlying genetic cause of UVSS and its functional consequences in nine members of two large, unrelated consanguineous pedigrees from Pakistan.”0.80saudi_context_rules_v1
populationPopulation“A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family. Case Presentation: The present study describes the investigation of a consanguineous family of Yemeni origin.”0.80saudi_context_rules_v1
populationPopulation“The landscape of early infantile epileptic encephalopathy in a consanguineous population. RESULTS: In this case series, we report 72 molecularly characterized EIEE from a highly consanguineous population, and review their clinical course. The number autosomal recessive predominance could be explained by the society's high consanguinity.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe a multiplex consanguineous family in which a homozygous truncating variant in ISLR2 segregates with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension.”0.80saudi_context_rules_v1
populationPopulation“In two multiplex consanguineous families, we identified two homozygous truncating ALKBH8 mutations causing intellectual disability.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We describe six members of a large consanguineous family with a phenotype of severe neurodegeneration in the form of developmental delays, progressive microcephaly, epilepsy, and failure to thrive.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Here, we study five individuals with myopathy of variable severity from four unrelated consanguineous couples.”0.80saudi_context_rules_v1
populationPopulation“We describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly and early death.”0.80saudi_context_rules_v1
populationPopulation“In a consanguineous family with congenital ptosis and elevation of the ptotic eyelid with ipsilateral abduction, we identified a co-segregating homozygous missense variant (c.772G>A) in ACKR3, which encodes an atypical chemokine receptor that binds CXCL12 and functions as a scavenger receptor, regulating levels of CXCL12 available for CXCR4 signaling.”0.80saudi_context_rules_v1
populationPopulation“We now report two patients from an extended consanguineous family with a deleterious variant in the cytosolic isoenzyme of MDH (MDH1).”0.80saudi_context_rules_v1
populationPopulation“Recent advances in genomic technologies have prompted the identification of genetic defects underlying rare, very early-onset IBD (VEO-IBD) as a disease subgroup noted especially in populations with higher consanguinity rates.”0.80saudi_context_rules_v1
populationPopulation“The parents are non-consanguineous and none of his family members had similar lesions.”0.80saudi_context_rules_v1
populationPopulation“Local barriers to care relating to issues concerned with gender, consanguinity, lack of understanding of diabetes, lack of understanding of obesity as a health issue, and limited resource at a national level for tracking and intervention for diabetes and other non-communicable diseases.”0.80saudi_context_rules_v1
populationPopulation“There is a high prevalence of genetic disorders particularly autosomal recessive conditions in societies having high rate of inter-family and consanguineous marriages.”0.80saudi_context_rules_v1
populationPopulation“CASE PRESENTATION: We investigated a patient with concomitant CAH and NDI from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“METHODS: We describe eight new HVDRR patients from four unrelated consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates.”0.80saudi_context_rules_v1
populationPopulation“Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND: Information on the epidemiology of familial hypercholesterolemia (FH) in the Arabian Gulf region, which has an elevated rate of consanguinity and type II diabetes, is scarce.”0.80saudi_context_rules_v1
populationPopulation“In the present study, a five-generation consanguineous Pakistani family harboring primary hypertrophic osteoarthropathy in autosomal-recessive pattern was ascertained.”0.80saudi_context_rules_v1
populationPopulation“In two unrelated consanguineous families, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predicted to affect the highly conserved DNA binding domain.”0.80saudi_context_rules_v1
populationPopulation“The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders.”0.80saudi_context_rules_v1
populationPopulation“A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“In addition, there was a positive history of generations of consanguinity in the patient's family pedigree, increasing the probability of an autosomal recessive inheritance.”0.80saudi_context_rules_v1
populationPopulation“SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report. Methodology/Laboratory Examination: The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia.”0.80saudi_context_rules_v1
populationPopulation“Here, we describe seven patients from three unrelated, consanguineous multiplex families that presented with dermatitis, esophagitis, and recurrent skin and chest infections with evidence of combined immunodeficiency.”0.80saudi_context_rules_v1
populationPopulation“Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner.”0.80saudi_context_rules_v1
populationPopulation“The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner.”0.80saudi_context_rules_v1
populationPopulation“PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“The first individual (consanguineous family) was homozygous for c.715C>T (p.Arg239∗), while the second (non-consanguineous family) was compound heterozygous for c.1009C>G (p.Arg337Gly) and a splice site variant c.1259+5G>T. The third individual (consanguineous family) was homozygous for a c.943C>T (p.Arg315∗).”0.80saudi_context_rules_v1
populationPopulation“The comparison group was three patients with familial C1q deficient SLE from three unrelated families, who were born to consanguineous parents with at least one affected sibling.”0.80saudi_context_rules_v1
populationPopulation“CASE PRESENTATION: Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay.”0.80saudi_context_rules_v1
populationPopulation“KEY POINTS: Constitutional mismatch repair-deficiency (CMMRD) syndrome, alternatively known as biallelic mismatch repair deficiency syndrome, occurs in subset of pediatric cancer patients, including those with primary brain tumors.Patients from Arab and other developing countries are predicted to have higher incidence of CMMRD due to high prevalence of consanguinity.Integration of molecular and/or genomic testing into routine clinical care for pediatric cancer patients is important to identify patients with CMMRD syndrome.Patient with CMMRD-associated cancers may show increased responsiveness to immune checkpoint inhibitors.To the authors' knowledge, this is the first report in the Arab world of a durable response to immune checkpoint inhibitors in a pediatric glioblastoma patient.”0.80saudi_context_rules_v1
populationPopulation“Prognostic role of KIR genes and HLA-C after hematopoietic stem cell transplantation in a patient cohort with acute myeloid leukemia from a consanguineous community. Herein, we studied the impact of the KIR/HLA interaction on HSCT outcomes in a longitudinal follow-up study of a highly consanguineous HLA-matched related cohort.”0.80saudi_context_rules_v1
populationPopulation“They had normal growth and development and were products of a consanguineous marriage. CONCLUSION: SHFM may occur as a result of consanguineous marriage, genetic mutation, and chemical exposure.”0.80saudi_context_rules_v1
populationPopulation“This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“To identify the underlying gene mutation in a large consanguineous Pakistani family.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We report three consanguineous families in which an isolated ocular phenotype is linked to a novel 3' UTR mutation in SLC4A4, a gene known to be mutated in a syndromic form of intellectual disability with renal and ocular involvement.”0.80saudi_context_rules_v1
populationPopulation“On the Arabian Peninsula, where consanguineous/endogamous marriages are customary, hereditary eye disease is often autosomal recessive and genotype-phenotype correlation is typically straightforward.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous Marriages and Endocrine Diseases in Arab Societies. The Arab societies have the highest prevalence of consanguineous marriages; this results in an increased incidence of autosomal recessive conditions. The aim of this review is to highlight endocrine conditions associated with consanguineous marriages; it also discusses the cultural and religious trends of family marriages; the barriers and scarcity of good counselling programs.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND: Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented.”0.80saudi_context_rules_v1
populationPopulation“Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care. Consanguineous marriages are common practice with an overall incidence ranging between 20 and 50%. PIDs are more common in areas with high rates of consanguineous marriage since most have an autosomal recessive mode of inheritance.”0.80saudi_context_rules_v1
populationPopulation“MATERIALS AND METHODS: The present report describes a large consanguineous family of Pakistani origin segregating Waardenburg anophthalmia syndrome in an autosomal recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“The same mutation was previously reported in three sisters, born from consanguineous parents and affected with hypocomplementemic urticarial vasculitis syndrome (HUVS).”0.80saudi_context_rules_v1
populationPopulation“We sought to identify the gene responsible for FND in a consanguineous Pakistani family segregating the disorder in autosomal recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances.”0.80saudi_context_rules_v1
populationPopulation“The prevalence of consanguinity contributes to the emergence of rare heredofamilial disorders and congenital anomalies of the kidneys and urinary tract.”0.80saudi_context_rules_v1
populationPopulation“The wide spectrum of β-thalassemia mutations could well be explained by looking at their geographical distribution, the history of malaria, wars, invasions, mass migrations, consanguinity, and settlements.”0.80saudi_context_rules_v1
populationPopulation“Risk factors of particular relevance in the region include iron overload in thalassaemia patients, some hereditary metabolic disorders due to consanguinity and infection with hepatitis virus B or C.”0.80saudi_context_rules_v1
populationPopulation“Using combined autozygome/exome analysis, a homozygous truncating mutation in MICU2 was found to fully segregate with a neurodevelopmental disorder in the form of severe cognitive impairment, spasticity, and white matter involvement in a multiplex consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We describe five members of a large consanguineous family with a severe mitochondrial disease phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVE: As the etiology of PCOS is unclear, we have performed a genome-wide analysis of a consanguineous family with three sisters diagnosed with PCOS.”0.80saudi_context_rules_v1
populationPopulation“Strikingly, rare biallelic point mutations-identified by whole-genome and targeted "HAR-ome" sequencing-showed a significant excess in individuals with ASD whose parents share common ancestry compared to familial controls, suggesting a contribution in 5% of consanguineous ASD cases.”0.80saudi_context_rules_v1
populationPopulation“CONCLUSIONS: This case series stresses the consanguinity in the family as an etiologic factor.”0.80saudi_context_rules_v1
populationPopulation“The high prevalence of metabolic syndrome, diabetes, familial hypercholesterolaemia (FH) and consanguineous marriages, in the ME region, results in a pattern of dyslipidaemia (low high-density lipoprotein cholesterol and high triglycerides) that is different from many other regions of the world.”0.80saudi_context_rules_v1
populationPopulation“In this report, we describe a consanguineous family with one child who presented with NKH, but harbored no pathogenic variants in any of the three genes linked to this condition.”0.80saudi_context_rules_v1
populationPopulation“In a BBS patient from a consanguineous marriage we performed next-generation sequencing targeting all known BBS genes and other genes known or hypothesized to cause ciliopathies.”0.80saudi_context_rules_v1
populationPopulation“Here, we review the literature related to genetics of DDH and emphasized the usefulness of new generation technologies in identifying genetic variants underlying DDH in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“In consanguineous families, homozygosity mapping and whole exome sequencing (WES) can be utilized to identify the genetic defects in recessively inherited DCM. METHODS: In a consanguineous family with four affected siblings with severe DCM, we combined homozygosity mapping, linkage analysis and WES, to uncover the genetic defect.”0.80saudi_context_rules_v1
populationPopulation“Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern.”0.80saudi_context_rules_v1
populationPopulation“MAIN OBSERVATIONS: Four months old twins both females, first children of a non-consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“PURPOSE: The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. CONCLUSION: Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“The identified F232fs variant is inherited in an autosomal recessive manner, and the healthy consanguineous parents carry the variant in a heterozygous state.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: We identified a missense variant (p.Arg89Gln) in KCNA4 in four patients from a consanguineous family manifesting a novel syndrome of congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.”0.80saudi_context_rules_v1
populationPopulation“In two siblings from a consanguineous family with epilepsy, developmental delay and severe cerebellar atrophy, combined exome/autozygome analysis identified a homozygous frameshift duplication in KCNMA1 (c.2026dupT; p. (Tyr676 Leufs*7)) in both children.”0.80saudi_context_rules_v1
populationPopulation“In a consanguineous multiplex family with a laterality defect that resembles situs inversus totalis, and complex congenital heart disease, we combined autozygome and exome analysis to identify a novel homozygous variant in ANKS3.”0.80saudi_context_rules_v1
populationPopulation“A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. PURPOSE: This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.”0.80saudi_context_rules_v1
populationPopulation“We describe two multiplex consanguineous families with non-syndromic ID phenotype, which maps to a critical linkage locus on 3q26.”0.80saudi_context_rules_v1
populationPopulation“We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial involvement.”0.80saudi_context_rules_v1
populationPopulation“With an aim to accelerate the establishment of new syndromes and their genetic etiology, we describe our experience with multiplex consanguineous families that appeared to represent novel autosomal recessive dysmorphology syndromes at the time of evaluation. METHODS: Combined autozygome/exome analysis of multiplex consanguineous families with apparently novel dysmorphology syndromes.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: In an extended consanguineous family, we identified a novel neuropsychiatric phenotype characterized by severe speech impairment, variable expressivity of attention deficit hyperactivity disorder (ADHD), and motor delay.”0.80saudi_context_rules_v1
populationPopulation“Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“We report a simplex case born to consanguineous parents who presented with muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction.”0.80saudi_context_rules_v1
populationPopulation“A third patient from a consanguineous Sudanese family diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) had a homozygous splice site mutation (c.331+1G>A) in TECRL Analysis of intracellular calcium ([Ca2+]i) dynamics in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) generated from this individual (TECRLHom-hiPSCs), his heterozygous but clinically asymptomatic father (TECRLHet-hiPSCs), and a healthy individual (CTRL-hiPSCs) from the same Sudanese family, revealed smaller [Ca2+]i transient amplitudes as well as elevated diastolic [Ca2+]i in TECRLHom-hiPSC-CMs compared with CTRL-hiPSC-CMs.”0.80saudi_context_rules_v1
populationPopulation“We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations.”0.80saudi_context_rules_v1
populationPopulation“Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family.”0.80saudi_context_rules_v1
populationPopulation“We describe a consanguineous family with two children who died shortly after birth due to complications related to severe hydranencephaly and diaphragmatic hernia.”0.80saudi_context_rules_v1
populationPopulation“In a multiplex consanguineous family, we applied autozygosity mapping and exome sequencing and identified a novel homozygous truncating mutation in PUS3 that fully segregates with the intellectual disability phenotype.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: Four affected individuals from three consanguineous Arabian families were identified.”0.80saudi_context_rules_v1
populationPopulation“In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD.”0.80saudi_context_rules_v1
populationPopulation“The patient was the second child of two healthy, non-obese Saudis with known consanguinity.”0.80saudi_context_rules_v1
populationPopulation“In addition, we discussed the effect of consanguinity on the incidence of complex diseases in human populations.”0.80saudi_context_rules_v1
populationPopulation“To get better insights on the genetic of this pathology, we exome-sequenced the members of a consanguineous family affected with isolated WS.”0.80saudi_context_rules_v1
populationPopulation“CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation.”0.80saudi_context_rules_v1
populationPopulation“DESIGN: We hypothesized that a consanguineous Pakistani family with IGHD in three siblings (two males, one female) would have mutations in GH1 or GHRHR.”0.80saudi_context_rules_v1
populationPopulation“In a research protocol involving autozygome mapping and exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencing. On the basis of this finding, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype and identified another homozygous change in RTTN as the likely causal mutation.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), and severe encephalopathy with seizures.”0.80saudi_context_rules_v1
populationPopulation“All the children were product of consanguineous marriages.”0.80saudi_context_rules_v1
populationPopulation“We also include a perspective on diabetes in Arabs, given the high incidence of T2D and consanguineous marriages, and the need to understand associated genetic components in this vulnerable population.”0.80saudi_context_rules_v1
populationPopulation“We identified a large consanguineous family of Indian descent with four affected members with childhood onset HSP (SPG54), presenting with upper and lower limb spasticity, mental retardation and agenesis of the corpus callosum.”0.80saudi_context_rules_v1
populationPopulation“He was the third child born to consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“The diagnosis is more likely to occur in families that have a history of consanguinity and more than one affected sibling. LEARNING POINTS: 3-M syndrome should be considered in families that have more than one sibling with short stature, particularly if there is consanguinity.Syndrome phenotype might be variable within a family with the same mutation.Genetic analysis is helpful in confirming diagnosis in the presence of variable siblings' phenotype.GH treatment might be useful in improving stature in 3-M syndrome.”0.80saudi_context_rules_v1
populationPopulation“CONCLUSIONS: The relatively low reporting of FH mutations in the consanguineous MENA communities with higher prevalence of CVD indicates poor awareness of CVD genetic risk and warrants a registry to prevent premature CVD due to FH.”0.80saudi_context_rules_v1
populationPopulation“Genetic counseling is important aspects as an increased incidence of consanguineous marriages have been reported with this disorder.”0.80saudi_context_rules_v1
populationPopulation“We studied six patients from five unrelated consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.”0.80saudi_context_rules_v1
populationPopulation“PURPOSE: This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.”0.80saudi_context_rules_v1
populationPopulation“Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal calcium sensor protein found almost exclusively in the brain and at particularly high levels in the striatum, as the cause of disease in this family.”0.80saudi_context_rules_v1
populationPopulation“Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family. The aim of this study is to investigate the genetic basis of autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family.”0.80saudi_context_rules_v1
populationPopulation“Because most of the recessive genes have been mapped using consanguineous families of Pakistani origin, therefore emphasis is given to mutations identified in these families.”0.80saudi_context_rules_v1
populationPopulation“Surprisingly, we also identified a novel truncating KIF7 mutation in a third consanguineous family, in which the index presented with intellectual disability but no overt signs of ciliopathy, and his brain magnetic resonance imaging revealed an isolated dysgenesis of corpus callosum.”0.80saudi_context_rules_v1
populationPopulation“Using parametric multipoint linkage analysis and whole exome sequencing, we have identified a gene responsible for microcephaly (MCP), severe visual impairment, intellectual disability, and short stature through the mapping of a homozygous nonsense alteration in a multiply-affected consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“Revisiting disease genes based on whole-exome sequencing in consanguineous populations. This study highlights an additional advantage of consanguineous populations in the quest to improve the medical annotation of the human genome.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis.”0.80saudi_context_rules_v1
populationPopulation“Subsequently, exome sequencing was undertaken in the proband, unaffected consanguineous parents and two unaffected siblings.”0.80saudi_context_rules_v1
populationPopulation“PURPOSE: To uncover the homozygous recessive gene mutation underlying familial lens subluxation and/or juvenile lens opacities in four sisters from a consanguineous family.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome.”0.80saudi_context_rules_v1
populationPopulation“BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity.”0.80saudi_context_rules_v1
populationPopulation“His parents are not consanguineous.”0.80saudi_context_rules_v1
populationPopulation“PURPOSE: The object of this study is to identify the underlying genetic defect in a consanguineous Tunisian family affected with autosomal recessive congenital cataract associated with mental retardation and microcephaly.”0.80saudi_context_rules_v1
populationPopulation“Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor. This report describes two cases of PLS in 28-year-old female and 16-year-old male siblings with consanguineously married parents.”0.80saudi_context_rules_v1
populationPopulation“In this clinical report, we describe two children from a consanguineous family with intellectual disability, microcephaly, and hypotonia.”0.80saudi_context_rules_v1
populationPopulation“The uniparental heterodisomy makes it unlikely that the hepatic fibrosis was caused by unmasking of a recessive mutation on the maternal chromosome 15 although we cannot exclude the possibility of a recessively inherited mutation elsewhere given the parental consanguinity.”0.80saudi_context_rules_v1
populationPopulation“IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.”0.80saudi_context_rules_v1
populationPopulation“Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.”0.80saudi_context_rules_v1
populationPopulation“Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: the burden of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations.”0.80saudi_context_rules_v1
populationPopulation“In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts.”0.80saudi_context_rules_v1
populationPopulation“We studied a large, consanguineous pedigree of Arab origin with seven members affected with ID and mild dysmorphic features.”0.80saudi_context_rules_v1
populationPopulation“Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVE: To describe a multiplex extended consanguineous family that defines a molecularly novel subtype of early infantile epileptic encephalopathy.”0.80saudi_context_rules_v1
populationPopulation“In a multiplex consanguineous family with DA5D, we combined autozygosity mapping and exome sequencing to identify a novel mutation in ECEL1. This was followed by targeted sequencing of this gene in another two extended consanguineous family with the same phenotype, which revealed two additional novel homozygous mutations.”0.80saudi_context_rules_v1
populationPopulation“Karyomapping was concordant with targeted haplotyping in 208 (97.7%) samples, and the five nonconcordant samples were all in consanguineous regions with limited or inconsistent haplotyping results.”0.80saudi_context_rules_v1
populationPopulation“We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities.”0.80saudi_context_rules_v1
populationPopulation“Re: Consanguinity and isolated atrial septal defect in the North East of Iran.”0.80saudi_context_rules_v1
populationPopulation“The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E).”0.80saudi_context_rules_v1
populationPopulation“METHODS: Three affected siblings from a consanguineous family were ascertained.”0.80saudi_context_rules_v1
populationPopulation“The parents were non-consanguineous Saudis with no family history of significant illness.”0.80saudi_context_rules_v1
populationPopulation“In two multiplex consanguineous Arab families affected by OFD, we identified a tight linkage interval in chromosomal region 1q32.1.”0.80saudi_context_rules_v1
populationPopulation“Although relatively uncommon, these disorders frequently occur in countries with high rates of consanguinity and are often associated with behavioral problems, such as hyperactivity and aggression.”0.80saudi_context_rules_v1
populationPopulation“In a multiplex consanguineous family with severe WWS phenotype, autozygome-guided sequencing of previously reported WWS genes was negative.”0.80saudi_context_rules_v1
populationPopulation“Primarily Arab and historically tribal, populations from this region often practice customary intrafamilial marriage (consanguinity), intratribal marriage (endogamy), and a preference for many offspring.”0.80saudi_context_rules_v1
populationPopulation“We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations.”0.80saudi_context_rules_v1
populationPopulation“In this study, we sought to determine the contribution of DOCK6 mutations to the etiology of AOS in several consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].”0.80saudi_context_rules_v1
populationPopulation“METHODS: In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.”0.80saudi_context_rules_v1
populationPopulation“We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia.”0.80saudi_context_rules_v1
populationPopulation“We report a consanguineous Arab family with three affected children, all of whom presented with severe neonatal epilepsy and profound neurodegenerative disease characterized by marked leukodystrophy with white matter cavitation mimicking VWMD.”0.80saudi_context_rules_v1
populationPopulation“The consanguineous parents carry the same two mutations within one SMN1 gene copy.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Autozygosity mapping on two branches of an extended multiplex consanguineous family presenting with cyclic neutropenia or severe congenital neutropenia to look for candidate gene, followed by candidate gene selection and sequencing.”0.80saudi_context_rules_v1
populationPopulation“Previous studies have attributed the prevalence of lipoid proteinosis to consanguineous parents. This paper reports a classical case of lipoid proteinosis with oral manifestations but without a history of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“MATERIALS AND METHODS: Autozygosity mapping, linkage analysis and exome sequencing were performed in a large multiplex consanguineous family that segregates ID and strabismus. Exome sequencing was independently performed in three other consanguineous families segregating the same disease.”0.80saudi_context_rules_v1
populationPopulation“It is particularly common in countries with high rates of consanguinity.”0.80saudi_context_rules_v1
populationPopulation“We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript. Direct sequencing of this gene in two siblings from another consanguineous family affected by isolated KFS uncovered another homozygous truncating (nonsense) MEOX1 mutation that also leads to complete degradation of the transcript.”0.80saudi_context_rules_v1
populationPopulation“This review will discuss in details the recent advances in molecular diagnostics and how the Arabian Peninsula can benefit from those techniques knowing for a fact the high percentages of consanguineous marriages and the tribal nature of marriages which resulted in high incidence of genetic diseases.”0.80saudi_context_rules_v1
populationPopulation“We report a consanguineous family with five patients affected with the cardinal ocular features of BCS and significant musculoskeletal findings primarily in the form of joint hypermobility and severe kyphoscoliosis.”0.80saudi_context_rules_v1
populationPopulation“OBJECTIVE: We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency.”0.80saudi_context_rules_v1
populationPopulation“RESULTS: This multiplex consanguineous family links to a novel locus on 4q31.1.”0.80saudi_context_rules_v1
populationPopulation“METHODS: The authors combined autozygome analysis and exome sequencing to study a consanguineous family with a highly unusual SHFM phenotype, where there is associated dorsalisation of the hands.”0.80saudi_context_rules_v1
populationPopulation“Discovery of rare homozygous mutations from studies of consanguineous pedigrees.”0.80saudi_context_rules_v1
populationPopulation“In a multiplex consanguineous family with isolated congenital cataract, we identified a novel autosomal recessive cataract locus on 7q33-q36.1.”0.80saudi_context_rules_v1
populationPopulation“The authors describe a case of Cenani-Lenz syndrome, in a 3-month-old girl of non-consanguineous parents of Afghani origin.”0.80saudi_context_rules_v1
populationPopulation“Here we describe a consanguineous family segregating juvenile ALS in an autosomal recessive pattern and describe the genetic variant responsible for the disorder.”0.80saudi_context_rules_v1
populationPopulation“However, consanguinity is evident in most cases. This report is of utmost importance for taking the necessary steps toward the prevention of inherited disorders, not just in the UAE, but anywhere in the world where these Arab and Asian populations reside, or where consanguinity is a cultural norm.”0.80saudi_context_rules_v1
populationPopulation“In this article, we describe the identification of a novel MKS locus MKS8 that we map to TCTN2, in a multiplex consanguineous family. The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci.”0.80saudi_context_rules_v1
populationPopulation“Study of consanguineous populations can improve the annotation of SNP databases.”0.80saudi_context_rules_v1
populationPopulation“Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. METHODS: We studied two consanguineous families with different eye phenotypes and used a combination of candidate gene analysis and homozygosity mapping to identify the underlying genetic defects. Thus, study of consanguineous populations has the additional advantage of not only identifying novel recessive genes but also defining the mutational mechanism of dominant disorders.”0.80saudi_context_rules_v1
populationPopulation“We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene.”0.80saudi_context_rules_v1
populationPopulation“RECENT FINDINGS: Mutations in CYP1B1, in addition to being the most common identifiable cause of autosomal recessive primary congenital/infantile glaucoma, can infrequently underlie juvenile and even primary adult-onset open-angle glaucoma, particularly in certain consanguineous populations. SUMMARY: Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“The three families were unrelated, but parents in each family were consanguineous.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous unions permit the "reunion" of ancestral chromosomal segments in a pattern referred to as "autozygosity," which is essentially a special form of homozygosity.”0.80saudi_context_rules_v1
populationPopulation“We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal period.”0.80saudi_context_rules_v1
populationPopulation“A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes.”0.80saudi_context_rules_v1
populationPopulation“AIM To clinically and molecularly characterise a consanguineous family with Seckel syndrome.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriages within most UAE subpopulations are still the norm, leading to the formation of isolates and higher frequencies of recessive conditions.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state.”0.80saudi_context_rules_v1
populationPopulation“UNLABELLED: Arab Gulf countries including Oman have a high rate of consanguineous marriage with an associated increased frequency of a variety of genetic disorders including liver diseases. The consanguinity rate amongst parents was 78%.”0.80saudi_context_rules_v1
populationPopulation“Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.”0.80saudi_context_rules_v1
populationPopulation“An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship.”0.80saudi_context_rules_v1
populationPopulation“Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. We clinically evaluated seven individuals with HGPPS from five previously unreported consanguineous families.”0.80saudi_context_rules_v1
populationPopulation“Detailed analysis of biomedical research objectives in the UAE indicate developed interest in pediatrics, obstetrics, clinical dysmorphologies, transplantation, dermatology, diabetes, and consanguinity.”0.80saudi_context_rules_v1
populationPopulation“The investigation of children from areas in which consanguineous marriages are common will probably facilitate the description of many more AR traits.”0.80saudi_context_rules_v1
populationPopulation“Here, we report three affected children in a consanguineous family who display typical features of Grebe-type chondrodysplasia.”0.80saudi_context_rules_v1
populationPopulation“Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure.”0.80saudi_context_rules_v1
populationPopulation“He was born to healthy consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity was positive in six patients, and there was family history of consanguinity in four patients, with two patients being siblings.”0.80saudi_context_rules_v1
populationPopulation“Islamic bioethics provides fundamental principles for genetic counseling, particularly in regard to consanguinity, which was part of the Arabian culture long before Islam but which was discouraged by the second Islamic khalifa.”0.80saudi_context_rules_v1
populationPopulation“We describe a bilateral leukocoria and neonatal purpura fulminans in a male infant, born at full term after an unremarkable pregnancy to a healthy consanguineous married couple.”0.80saudi_context_rules_v1
populationPopulation“The presence of affected females and consanguinity, as is often observed in Arab communities should not be used to rule out AVPR2 as a candidate when considering diagnostic testing.”0.80saudi_context_rules_v1
populationPopulation“Family history of consanguinity was present, but both parents were unaffected.”0.80saudi_context_rules_v1
populationPopulation“The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA.”0.80saudi_context_rules_v1
populationPopulation“We found 77.9% consanguinity among the couples CONCLUSION: We found very good acceptability for prenatal diagnosis in beta-thalassemia afflicted families.”0.80saudi_context_rules_v1
populationPopulation“Their demographic features include high rates of consanguinity, a large family size and a rapid population growth.”0.80saudi_context_rules_v1
populationPopulation“We ascertained a patient with the full-blown phenotype of isolated sulfite oxidase deficiency in a consanguineous Arab family.”0.80saudi_context_rules_v1
populationPopulation“Our patient was the product of a consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“Autosomal recessive inheritance remained a logical explanation, although such a high degree of disease presentation in a non-consanguineous marriage seems to put that possibility in question.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity in Kahramanmaras city, Turkey, and its medical impact. OBJECTIVE: Recently, several studies have indicated the rate of consanguinity ranging between 20 and 70% in the Middle East. Turkey is one of the countries with a high rate of consanguineous unions in the Middle East. In this study, the rate of consanguinity and its effects on spontaneous abortus, stillbirth, infant mortality, and birth defects were investigated in a population sample residing in Kahramanmaras city, Turkey. RESULTS: The prevalence of consanguinity was found to be 30.6% with the mean inbreeding coefficient of 0.015373. The most common type of consanguineous mating was first cousin marriages with the frequency of 22.6%. The mean age at marriage of women and men were lower in consanguineous marriages than that of non-consanguineous unions. There was a negative correlation between the consanguinity and educational level of both sexes. The results revealed differences between consanguineous and non-consanguineous matings, in terms of stillbirth, infant mortality and birth defects whereas the rate of spontaneous abortus was found to be the same in 2 kinds of marriages. CONCLUSION: The incidence of consanguinity and of first cousin marriages is found to be very high in the Kahramanmaras city. A reduction of consanguinity rate is necessary for the health quality of the population.”0.80saudi_context_rules_v1
populationPopulation“In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based disorders.”0.80saudi_context_rules_v1
populationPopulation“The children were both born preterm, with low birthweights, to consanguineous parents.”0.80saudi_context_rules_v1
populationPopulation“No hereditary family history was found and there was no consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“No hereditary family history was found and there was no consanguineous marriage.”0.80saudi_context_rules_v1
populationPopulation“In spite of the highly consanguineous nature of this population several different mutations were found.”0.80saudi_context_rules_v1
populationPopulation“A consanguineous family affected by an autosomal recessive, progressive neurodegenerative Huntington-like disorder, was tested to rule out juvenile-onset Huntington disease (JHD).”0.80saudi_context_rules_v1
populationPopulation“The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement.”0.80saudi_context_rules_v1
populationPopulation“Consanguinity, fertility, reproductive wastage, infant mortality and congenital malformations in Jordan. OBJECTIVES: Consanguinity is a wide spread practice in Jordan. The objective of this study is to explore the health effects of consanguinity, in particular fertility, reproductive wastage, infant mortality and congenital malformations. RESULTS: The study showed that fertility, as measured by the number of pregnancies, taking into consideration marriage duration, was not affected by consanguinity. Twin pregnancies and abortions did not show any significant difference between consanguineous and non-consanguineous marriages. Consanguineous marriages showed significantly higher rates of still births and infant mortality in general. Within the consanguineous group, female infant mortality rates were significantly higher than those of males. Congenital malformations as reported by mothers of consanguineous marriages were significantly higher than those reported by mothers of non-consanguineous marriages. CONCLUSION: This study showed that consanguinity has a detrimental effect on many aspects of reproductive health.”0.80saudi_context_rules_v1
populationPopulation“A monozygous pair of twins with long segment Hirschsprung's disease born to non consanguineous parents is presented.”0.80saudi_context_rules_v1
populationPopulation“All parents are consanguineous and have a first- or second-degree relationship.”0.80saudi_context_rules_v1
populationPopulation“Prevalence and social correlates to consanguinity in Kuwait. BACKGROUND: Kuwait has one of the highest consanguinity rates in the world. Our objectives in this study were to assess the frequency and trend in consanguineous marriages, and to identify factors associated with inbreeding. Frequency of total (first and second cousin) consanguinity was much higher in Jahra governorate (42.1%) than the Capital (22.6%). Bivariate analysis indicated that several socioeconomic and demographic variables were significantly associated with consanguinity. The control of confounding factors by logistic regression showed, however, that Bedouin origin and year of marriage were the only variables significantly related to consanguinity. CONCLUSION: There is a widening gap between Bedouins and non-Bedouins in the practice of consanguinity in Kuwait.”0.80saudi_context_rules_v1
populationPopulation“Highest incidence rates of neural tube defects occurred in countries where consanguineous marriages are common.”0.80saudi_context_rules_v1
populationPopulation“Parental consanguinity and lack of phenotype manifestation in the ancestry of the present family favoured an interpretation of determination by an autosomal recessive trait.”0.80saudi_context_rules_v1
populationPopulation“We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function.”0.80saudi_context_rules_v1
populationPopulation“Here we report on two siblings from a consanguineous family expressing an internally deleted laminin alpha2-chain as a result of a splice site mutation in the LAMA2 gene which causes the splicing of exon 25.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriages in the United Arab Emirates. This study examines the frequency of consanguineous marriage and the coefficient of inbreeding in the United Arab Emirates (UAE). The degree of consanguinity between each female and her spouse, and the degree of consanguinity between their parents were recorded. The rate of consanguinity in the present generation was high (50.5%) with a coefficient of inbreeding of 0.0222. The commonest type of consanguineous marriage was between first cousins (26.2%). The consanguinity rate in the UAE has increased from 39% to 50.5% in one generation. The level of consanguinity was higher in Al Ain (54.2%) than in Dubai (40%).”0.80saudi_context_rules_v1
populationPopulation“Congenital malformations: Are they more prevalent in populations with a high incidence of consanguineous marriages?”0.80saudi_context_rules_v1
populationPopulation“Three children from consanguineous parents began losing the ability to walk in late infancy.”0.80saudi_context_rules_v1
populationPopulation“We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism.”0.80saudi_context_rules_v1
populationPopulation“Multihandicap and consanguinity in Kuwait: A case-control study.”0.80saudi_context_rules_v1
populationPopulation“A syndrome is reported of congenital non-progressive, gradually slightly improving, ataxia in 3 out of 5 male sibs, issues of a first-order consanguineous mating.”0.80saudi_context_rules_v1
populationPopulation“In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes.”0.80saudi_context_rules_v1
populationPopulation“Co-inheritance of two or more abnormal genes in the same individual is frequently encountered, particularly in certain 'closed' tribes in Arabia in which consanguinity is the norm.”0.80saudi_context_rules_v1
populationPopulation“PATIENTS: Two siblings of consanguineous parents, a girl aged 28 months and a boy aged 10 months with vitamin D dependent rickets type II.”0.80saudi_context_rules_v1
populationPopulation“Eleven patients with blue sclera, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents were examined between January 1983 and September 1991.”0.80saudi_context_rules_v1
populationPopulation“Parental consanguinity suggests autosomal recessive inheritance.”0.80saudi_context_rules_v1
populationPopulation“Six patients (6 eyes) between the ages of 2 and 16 years of age (mean, 7.5 years) with keratoglobus, blue sclera, hypermobile joints, and consanguineous parents were treated by epikeratoplasty, using commercially prepared 12.5-mm lenticules.”0.80saudi_context_rules_v1
populationPopulation“Consanguineous marriage among rural Arabs in Israel. The prevalence of consanguineous marriages was examined among the Arab rural population in the Western Galilee region in Israel. The prevalence of consanguineous marriages was higher in the younger generation whose members had remained in their family village. The high prevalence of consanguinity is an unfavorable factor in this population's health condition.”0.80saudi_context_rules_v1
populationPopulation“A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents.”0.80saudi_context_rules_v1
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.