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10 records shown · first 60Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.
PMID 42074148 | PMCID PMC13116526 | DOI 10.3390/ijms27083506 · International journal of molecular sciences · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.
PMID 30127590 | PMCID PMC6089601 | DOI 10.2147/OPTH.S169943 · Clinical ophthalmology (Auckland, N.Z.) · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “We screened unrelated POAG cases and healthy controls for mutations in CYP1B1 using automated Sanger sequencing to identify five known polymorphisms and one CYP1B1 mutation (p.G61E) in a heterozygous status.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “CYP1B1 mutations have been associated primarily with primary congenital glaucoma (PCG).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin. These findings suggest that CYP1B1 may have no major role in the pathogenesis of POAG, at least, in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
PMID 24099281 | DOI 10.3109/13816810.2013.841961 · Ophthalmic genetics · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
PMID 22128238 | PMCID PMC3224840 · Molecular vision · 2011 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G61E | “We detected a total of 13 mutations: 9 missense mutations (G61E, A119S, R390H, P437L, D441G, A443G, G466S, G466D, and R469W), 2 deletions (g.4238_4247del and g.7901_7913del), and 2 nonsense mutations (R355X and R444X).” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.
PMID 21306220 | DOI 10.3109/13816810.2010.544365 · Ophthalmic genetics · 2011 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “The common Saudi mutation p.G61E occurred in most cases (38 homozygous, 8 compound heterozygous).” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “All had CYP1B1 sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | PAX6 | “Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | FOXC1 | “Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing.” | 0.98 | hgnc_dict_v1 |
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
PMID 21596299 | DOI 10.1016/j.jaapos.2011.01.156 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2011 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
PMID 17224759 | DOI 10.1097/01.ijg.0000212288.00917.e1 · Journal of glaucoma · 2007 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G61E | “RESULTS: Three CYP1B1 mutations were identified in 5 PCG patients (45.4%) of which 2 were novel (homozygous E173K and heterozygous N498D) and the third (G61E) had previously been reported.” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular basis of Peters anomaly in Saudi Arabia.
PMID 15621878 | DOI 10.1080/13816810490902648 · Ophthalmic genetics · 2004 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G61E | “Five individuals were homozygous for G61E and one was homozygous for 143del10.” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “Mutations in cytochrome P4501B1 (CYP1B1) are the most common cause of PCG in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | FOXC1 | “The coding exons of FOXC1, PITX2, and PAX6 were screened and those of CYP1B1 and FOXE3 sequenced.” | 0.98 | hgnc_dict_v1 |
| gene | PITX2 | “The coding exons of FOXC1, PITX2, and PAX6 were screened and those of CYP1B1 and FOXE3 sequenced.” | 0.98 | hgnc_dict_v1 |
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
PMID 12372064 | DOI 10.1034/j.1399-0004.2002.620415.x · Clinical genetics · 2002 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G61E | “Seven patients were homozygous for 4339delG and two other patients for G61E, whereas the two remaining patients were compound heterozygotes.” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In this study, CYP1B1 mutations were searched for in 32 unrelated PCG patients from Morocco. The other, G61E, was previously found in patients from Turkey and Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
PMID 10655546 | DOI 10.1093/hmg/9.3.367 · Human molecular genetics · 2000 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G61E | “Eight distinct mutations were identified: G61E, R469W and D374N, the most common Saudi mutations, account for 72, 12 and 7%, respectively, of all the PCG chromosomes.” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Recently, we reported three distinct mutations in CYP1B1, the gene for cytochrome P4501B1, in 25 Saudi families segregating PCG. Eight distinct mutations were identified: G61E, R469W and D374N, the most common Saudi mutations, account for 72, 12 and 7%, respectively, of all the PCG chromosomes. The identification of eight distinct mutations in a single gene, on four distinct haplotypes, suggests a relatively recent occurrence of multiple mutations in CYP1B1 in Saudi Arabia. These data demonstrate decreased penetrance of the PCG phenotype in the Saudi population, because 40 apparently unaffected individuals in 22 families have mutations and haplotypes identical to their affected siblings.” | 0.95 | saudi_context_rules_v1 |