Population record
Saudi Arabia · 6 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. In consanguineous populations, the presence of multiple rare variants can further complicate the molecular diagnosis. This study aimed to clarify the genetic basis of a complex syndromic presentation in a consanguineous Saudi family exhibiting features suggestive of both disorders using an integrated phenotypic, genomic, and computational approach. These findings emphasize the value of integrating phenotypic, genomic, segregation, and structural analyses to resolve diagnostically challenging cases, particularly in consanguineous populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Relationships among consanguinity, family history, and the onset of type 1 diabetes in children from Saudi Arabia. AIMS: We aimed to demonstrate the relationship between parental consanguinity and positive family histories of type 1 diabetes mellitus (T1DM) and autoimmune disease and the development of T1DM among children in Saudi Arabia. Detailed patients' data recorded while distributing questionnaires to control samples included various gradations of consanguinity and family histories of T1DM and autoimmune disease. RESULTS: Parental consanguinity was not significantly associated with T1DM; however, children of first-cousin parents showed a higher risk of developing T1DM than did children of second-cousin parents. CONCLUSIONS: Parental consanguinity and family history of autoimmunity were not clearly linked to T1DM development in children, indicating that T1DM is a multifactorial disease.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome. In the present study, the underlying cause of NS in a consanguineous family was identified. Clinical and molecular aspects of a consanguineous Saudi family comprised of five individuals with steroid resistant NS were examined.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. RESULTS: Eight identified probands (3-11 years old; 4 boys) from consanguineous and/or endogamous Saudi Arabian families all harbored FBN1 mutation--7 autosomal dominant and 1 autosomal recessive (homozygous).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: Ophthalmological examinations, chart review, ultrasound biomicroscopy, corneal confocal microscopic examinations with Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene in individuals from three consanguineous Saudi families with LP.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of a Saudi family with paternally inherited chromosomal translocations. In this brief report of a consanguineous Saudi family, four offsprings inherited one or both of balanced reciprocal translocations from their father. This underscores the influence of HLA genotype DQ 2/8 in the susceptibility and DQ6 in the protective effect on type 1 diabetes even in individuals with gross chromosomal abnormalities.” | 0.95 | saudi_context_rules_v1 |