ArticleThe Journal of molecular diagnostics : JMD2007
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Article in The Journal of molecular diagnostics : JMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Pooled it
- Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders.Molecular genetics and metabolism reports · 2026Article
- Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.Human mutation · 2026Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024Review
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.Journal of clinical medicine · 2021Article
- Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.International ophthalmology · 2021Article
- Genetic analysis of patients with primary congenital glaucoma.International ophthalmology · 2021Article
- Exome Sequencing in a Swiss Childhood Glaucoma Cohort RevealsTranslational vision science & technology · 2020Article
- CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.Journal of glaucoma · 2019Article
- Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.International journal of ophthalmology · 2019Article
- Two novel variants inInternational journal of ophthalmology · 2019Article
- Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
- Analysis ofJournal of pediatric genetics · 2017Review
- Primary congenital and developmental glaucomas.Human molecular genetics · 2017Review
- A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.Human genome variation · 2016Article
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Authors and funding
23 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the approximately 70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied. Three SNP blocks determined the haplotypes. Comparison of haplotypes with those of other populations suggests a common origin for many of the mutations.
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