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CYP1B1 and primary congenital glaucoma are reported together in 30 articles.
Gene
CYP1B1
- HGNC
- HGNC:2597
58articles
58mentions
8variants with confirmed gene link
Most co-reported phenotypes (articles)
primary congenital glaucoma 30breast cancer 5diabetes mellitus 3hypertension 2arrhythmia 1autism spectrum disorder 1colorectal cancer 1coronary artery disease 1
Reported variants (articles · ClinVar status)
Phenotype
Primary congenital glaucoma
70articles
70mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
30 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 |
|---|---|---|---|---|
| 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 |
| phenotype | primary congenital glaucoma | “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 | phenotype_alias_lexicon_v2 |
| 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 |
Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
PMID 40169658 | PMCID PMC11962170 | DOI 10.1038/s41598-025-85913-3 · Scientific reports · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “A prioritization strategy was employed to identify variants in known PCG-related genes, primarily focusing on CYP1B1.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, still needs to be explored. Six consanguineous Pashtun families (PCG-01, PCG-02, PCG-03, PCG-04, PCG-05, & PCG-07) suffering from PCG were recruited for whole exome sequencing. R290Pfs36) and c.1169G > A (p.R390H), were also detected in PCG-01 and PCG-04 families, respectively. This study identifies novel pathogenic variants associated with PCG in consanguineous Pashtun families, highlighting the role of CYP1B1 mutations in PCG development.” | 0.80 | saudi_context_rules_v1 |
| variant | c.9delC | “Notably, a novel homozygous mutation, c.9delC (S4Afs9), was identified in the CYP1B1 gene in one family (PCG-07).” | 0.95 | hgvs_regex_v1 |
Genetic heterogeneity of primary open-angle glaucoma in Pakistan.
PMID 36387029 | PMCID PMC9649946 | DOI 10.1016/j.sjbs.2022.103488 · Saudi journal of biological sciences · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Southern Province | “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma). METHODS: After approval from Institutional Ethical Review Committee (ERC), 25 POAG families were enrolled from the southern province (Sindh) of Pakistan. CONCLUSION: This is the first report of any POAG family found associated with a novel variant in CYP1B1 from the southern province of Pakistan whereas one family found associated with a reported variant in Myoc.” | 0.80 | saudi_context_rules_v1 |
| variant | c.144G>T | “Screening for Myoc revealed one previously reported variant c.144G>T in POAG-06 whereas screening for CYP1B1 in all 25 families showed a novel variant c.649G>A in POAG-02.” | 0.95 | hgvs_regex_v1 |
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
PMID 33641569 | DOI 10.1080/09286586.2021.1883676 · Ophthalmic epidemiology · 2022 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Variants in CYP1B1 gene are the most encountered in PCG cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYOC | “Sixty-nine variants were identified in the CYP1B1 gene, five variants were in the MYOC gene and single variants were reported in NTF4, FOXC1, and WDR36 genes.” | 0.98 | hgnc_dict_v1 |
| gene | NTF4 | “Sixty-nine variants were identified in the CYP1B1 gene, five variants were in the MYOC gene and single variants were reported in NTF4, FOXC1, and WDR36 genes.” | 0.98 | hgnc_dict_v1 |
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
PMID 34020567 | DOI 10.1177/11206721211016308 · European journal of ophthalmology · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. One hundred and sixty-one mutations were found in 1641 tested patients and three families, including 78 novel mutations. It was identified in Iran, Portugal and Saudi Arabia and for the first time in Brazil and Vietnam. Mainly within five countries: Iran, Portugal, Saudi Arabia, Brazil and Vietnam.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Gly61Glu | “The first and most common mutation in our study is 182 G>A (p.Gly61Glu).” | 0.95 | hgvs_regex_v1 |
Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association.
PMID 34594583 | PMCID PMC8478586 | DOI 10.1155/2021/4808346 · Case reports in ophthalmological medicine · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association.” | 0.93 | phenotype_alias_lexicon_v2 |
The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).
PMID 33170892 | PMCID PMC7654781 | DOI 10.1371/journal.pone.0241902 · PloS one · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Focusing on primary congenital glaucoma, which is not completely understood, we report an evaluation of an untested mutation (c.182G>A, p.Gly61Glu) within the CYP1B1 gene in the context of microglia, astrocytes and mesenchymal stem cells.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Gly61Glu | “The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).” | 0.95 | hgvs_regex_v1 |
| variant | c.182G>A | “Focusing on primary congenital glaucoma, which is not completely understood, we report an evaluation of an untested mutation (c.182G>A, p.Gly61Glu) within the CYP1B1 gene in the context of microglia, astrocytes and mesenchymal stem cells.” | 0.95 | hgvs_regex_v1 |
Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report.
PMID 31927558 | PMCID PMC6977633 | DOI 10.12659/AJCR.918128 · The American journal of case reports · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Further genetic testing showed no mutations in the CYP1B1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “Family history was negative for congenital glaucoma and both parents are healthy and non-consanguineous.” | 0.80 | saudi_context_rules_v1 |
CYP1B1 gene: Implications in glaucoma and cancer.
PMID 32626511 | PMCID PMC7330686 | DOI 10.7150/jca.42669 · Journal of Cancer · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “CYP1B1 gene: Implications in glaucoma and cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Patients with primary congenital glaucoma may have elevated intraocular pressure.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Hypertension causes damages to intraocular structures and affects the Schlemm's canal, collector channels, trabecular meshwork, and optic nerve's molecular structures.” | 0.98 | phenotype_alias_lexicon_v2 |
Congenital glaucoma and CYP1B1: an old story revisited.
PMID 29556725 | DOI 10.1007/s00439-018-1878-z · Human genetics · 2019 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Congenital glaucoma and CYP1B1: an old story revisited.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Congenital glaucoma and CYP1B1: an old story revisited.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | LTBP2 | “No mutations in LTBP2, MYOC or TEK were encountered.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “No mutations in LTBP2, MYOC or TEK were encountered.” | 0.98 | hgnc_dict_v1 |
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
PMID 29703882 | PMCID PMC5944404 | DOI 10.12659/AJCR.908036 · The American journal of case reports · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Also, he was diagnosed as having congenital glaucoma with CYP1B1 mutation, homozygous recessive.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | IFIH1 | “A whole-exome sequencing identified IFIH1 heterozygous missense mutation of the patient, which is associated with AGS Type 7.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Family history was positive for glaucoma, with consanguineously married parents. The aim of this paper is to lay the foundation for a national database on AGS in Saudi Arabia, which will help create a bridge between genetic data and clinical findings of AGS patients.” | 0.95 | saudi_context_rules_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 |
|---|---|---|---|---|
| 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 |
| 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 |
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
PMID 29142762 | PMCID PMC5683959 | DOI 10.1055/s-0037-1602695 · Journal of pediatric genetics · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. CYP1B1 mutations were assessed in 1,220 patients with PCG and identified in 41.6% of them. This current review shows that consanguinity plays an important role in the PCG pathogenesis and transmission; however, sporadic mutations have been found in some cases. For instance, the p.Gly61Glu, p.Arg390His, p.Gly61Glu, c.4,339delG, p.E387Lys, and p.Val320Leu were considered founder mutations for Iran/Saudi Arabia, Pakistan, Lebanon, Morocco, Europe, and Vietnam/South Korea, respectively.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Gly61Glu | “For instance, the p.Gly61Glu, p.Arg390His, p.Gly61Glu, c.4,339delG, p.E387Lys, and p.Val320Leu were considered founder mutations for Iran/Saudi Arabia, Pakistan, Lebanon, Morocco, Europe, and Vietnam/South Korea, respectively.” | 0.95 | hgvs_regex_v1 |
Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
PMID 24911043 | DOI 10.3109/13816810.2014.924017 · Ophthalmic genetics · 2016 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | DTHD1 | “Array CGH revealed 2 de novo 7p heterozygous duplications (7p21 - 7p14, encompassing 223 genes, and 7p14-7p11.2, encompassing 225 genes) and a 4p homozygous microdeletion (4p14) encompassing one gene only, DTHD1.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma. PURPOSE: To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic. CONCLUSIONS: The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation.” | 0.95 | saudi_context_rules_v1 |
A novel CYP1B1 mutation with congenital glaucoma and total aniridia.
PMID 24001018 | DOI 10.3109/13816810.2013.833635 · Ophthalmic genetics · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “A novel CYP1B1 mutation with congenital glaucoma and total aniridia.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “A novel CYP1B1 mutation with congenital glaucoma and total aniridia.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.S485F | “Genetic analysis revealed a novel CYP1B1 gene mutation (g.8291 C > T; p.S485F).” | 0.95 | hgvs_regex_v1 |
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
PMID 25261878 | PMCID PMC4258803 | DOI 10.1186/s12881-014-0109-2 · BMC medical genetics · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia. RESULTS: 34 patients were studied; 18 patients belonged to 8 families, and 16 patients were non-familial, isolated PCG. Consanguinity was found in 27/34 (79.4%) of cases. All mutations were reported previously in the Saudi population, except p.Glu229Lys. CONCLUSIONS: This study confirms that CYP1B1 mutations are the most frequent cause of PCG in the Saudi population, with p.Gly61Glu being the major disease-associated mutation. Genetic studies of recessive diseases such as PCG is important in consanguineous populations, since it will increase awareness and allows genetic counseling to be offered to patients and their relatives.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Gly61Glu | “Direct sequencing of exon 2 revealed two pathogenic variants (p.Gly61Glu, p.Glu229Lys).” | 0.95 | hgvs_regex_v1 |
Congenital glaucoma with acquired peripheral circumferential iris degeneration.
PMID 23363883 | DOI 10.1016/j.jaapos.2012.09.011 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Congenital glaucoma with acquired peripheral circumferential iris degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | FOXC1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| variant | p.Gly61Glu | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.95 | hgvs_regex_v1 |
Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
PMID 24210336 | DOI 10.1016/j.jaapos.2013.08.004 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2013 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “We report 3 children with corneal enlargement without optic nerve head cupping who had recessive CYP1B1 mutations, the most common identifiable cause of primary congenital glaucoma.” | 0.98 | phenotype_alias_lexicon_v2 |
CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
PMID 23158549 | DOI 10.1016/j.jaapos.2012.07.007 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2012 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Nonsyndromic primary newborn glaucoma, the most severe form of primary congenital glaucoma, typically is bilateral and often the result of CYP1B1 mutations, particularly in certain consanguineous populations.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. Nonsyndromic primary newborn glaucoma, the most severe form of primary congenital glaucoma, typically is bilateral and often the result of CYP1B1 mutations, particularly in certain consanguineous populations. During a 9-year period, we tested 5 consecutive children with unilateral primary newborn glaucoma from Saudi Arabia, where CYP1B1 mutations are the cause for 91% of bilateral primary newborn glaucoma cases.” | 0.95 | saudi_context_rules_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 |
|---|---|---|---|---|
| gene | CYP1B1 | “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 |
| gene | LTBP2 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) and latent-transforming growth factor beta-binding protein 2 (LTBP2) mutations in a group of Saudi PCG patients and attempted to correlate the mutation status with the disease severity. METHODS: Genomic DNA was collected from 54 unrelated Saudi PCG families (74 patients) who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in CYP1B1 and LTBP2 by sequencing. CONCLUSIONS: CYP1B1 mutations are the predominant cause of PCG in the Saudi Arabian population with G61E as the dominant disease-associated allele.” | 0.95 | saudi_context_rules_v1 |
Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.
PMID 19593207 | DOI 10.1097/IJG.0b013e3181a98b6f · Journal of glaucoma · 2010 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “RESULTS: In 9 of 11 unrelated affected Israeli Bedouin families, PCG was associated with homozygosity of 3 different CYP1B1 mutations. As in Saudi Arabian families, the 3987G>A CYP1B1 substitution accounted for approximately 50% of cases. In 2 consanguineous families, there was no evidence of homozygosity or mutations in CYP1B1. The most frequently found CYP1B1 mutation (3987G>A) in our study is also the commonest CYP1B1 mutation in the Saudi Arabian population, in line with the common genetic background of both populations. The absence of homozygosity in the CYP1B1 locus in the affected individuals in 2 consanguineous inbred families, suggests that other genes take part in the causation of congenital glaucomas.” | 0.95 | saudi_context_rules_v1 |
| variant | 3987G>A | “As in Saudi Arabian families, the 3987G>A CYP1B1 substitution accounted for approximately 50% of cases.” | 0.82 | literature_variant_regex_v2 |
Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.
PMID 18414103 | DOI 10.1097/IJG.0b013e31815678c3 · Journal of glaucoma · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “PURPOSE: The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies. Two cases were familial and with proven consanguinity, originating from distinct regions of the country. RESULTS: An identical pathogenic CYP1B1 mutation was demonstrated in 2 unrelated PCG subjects.” | 0.95 | saudi_context_rules_v1 |
| variant | E387K | “The mutation consisted of a homozygous G to A transition at nucleotide position 1505 in exon 3, which predicted a substitution of glutamic acid for lysine at residue 387 of the protein (E387K).” | 0.82 | literature_variant_regex_v2 |
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 |
|---|---|---|---|---|
| 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 |
| 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 |
| 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 |
| population | Saudi Arabia | “A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). 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). PATIENTS AND METHODS: A clinical and molecular genetic study was performed on 11 Egyptian and Saudi Arabian patients with PCG.” | 0.95 | saudi_context_rules_v1 |
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
PMID 16490498 | DOI 10.1016/j.ajo.2005.11.001 · American journal of ophthalmology · 2006 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “PURPOSE: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: Polymerase chain reaction-restriction polymorphism length fragment (PCR-RPLF) and direct sequencing of exon 2 and the coding region of exon 3 of CYP1B1 gene were the methods used for screening 17 PCG patients, their families, and 105 health individuals from the same ethnicity. The most common one (47%) was homozygote Gly61Glu mutation, previously described in Saudi Arabia, Turkey, and Morocco; all patients were products of consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
PMID 16565383 | DOI 10.1167/iovs.05-0763 · Investigative ophthalmology & visual science · 2006 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive ocular trait caused by mutations in the gene for cytochrome P4501B1 (CYP1B1).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Although PCG is often considered to be fully penetrant, the disease shows 50% penetrance in some Saudi Arabian families. METHODS: A genome-wide screen, a single nucleotide polymorphism (SNP) analysis in the TYR chromosomal region 11q13-q21, and sequencing of the TYR gene was performed with individuals from Saudi Arabian families with multiple, clinically confirmed, molecularly proven, nonpenetrant members. CONCLUSIONS: TYR is not a modifier of the CYP1B1-associated PCG phenotype in the Saudi Arabian population.” | 0.95 | saudi_context_rules_v1 |
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 |
|---|---|---|---|---|
| gene | CYP1B1 | “Mutations in cytochrome P4501B1 (CYP1B1) are the most common cause of PCG in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Peters anomaly (PA) and primary congenital glaucoma (PCG) are genetically and phenotypically distinct conditions.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
PMID 15475877 · Molecular vision · 2004 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: The study included 64 new and unrelated cases of primary congenital glaucoma from different ethnic groups of India. The frequency of CYP1B1 mutations was comparatively lower than Saudi Arabian, Slovakian Gypsys, and Turkish populations, largely due to genetic heterogeneity and ethnic diversities in Indian populations.” | 0.95 | saudi_context_rules_v1 |
| variant | g.7900-7901delCG | “These included two frameshift mutations leading to deletions of 23 bp (g.3905del23bp) and 2 bp (g.7900-7901delCG) in exons II and III, respectively.” | 0.95 | hgvs_regex_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 |
|---|---|---|---|---|
| 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 |
| 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 |
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 |
|---|---|---|---|---|
| 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 |
| 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 |
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
PMID 9463332 | PMCID PMC1376900 | DOI 10.1086/301725 · American journal of human genetics · 1998 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Homozygosity mapping with a DNA pooling strategy in three large consanguineous Saudi PCG families identified the GLC3A locus on chromosome 2p21 in a region tightly linked to PCG in another population. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in this region and incomplete penetrance, but it showed no evidence of genetic heterogeneity. Furthermore, the small number of PCG mutations identified in this Saudi population makes both neonatal and population screening attractive public health measures.” | 0.95 | saudi_context_rules_v1 |