ArticleMolecular vision2010
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Pooled it
- No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Molecular vision · 2012Pooled it
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.BMC genomics · 2024Article
- Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.International journal of molecular sciences · 2024Article
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.Journal of clinical medicine · 2021Article
- Updates on the molecular genetics of primary congenital glaucoma (Review).Experimental and therapeutic medicine · 2020Review
- Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.Molecular vision · 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
- Article
- Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition.Drug metabolism reviews · 2014Review
- A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response.Trends in molecular medicine · 2013Review
- Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Molecular vision · 2011Article
- Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.Pakistan journal of medical sciencesArticle
- Investigation ofMiddle East African journal of ophthalmologyArticle
- Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.Journal of current glaucoma practiceReview
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the contribution of cytochrome P4501B1 (CYP1B1) and myocillin (MYOC) mutations to primary congenital glaucoma (PCG) in Moroccan families.
methodsThis study included 90 unrelated families with PCG and 100 normal control individuals. Two previously reported CYP1B1 mutations (g.4339delG and p.G61E) were first screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The coding exons of CYP1B1 were sequenced in g.4339delG- and p.G61E-negative or heterozygous probands. Then the coding exons of MYOC were sequenced in patients who had no mutation in CYP1B1 or carried heterozygous CYP1B1 mutation.
resultsTwelve CYP1B1 mutations were identified in 43 PCG pedigrees. Three of them were novel (p.R163C, p.C470Y, and g.4330-4331delTG) and associated with moderate to severe phenotypes. Two novel intronic polymorphisms in CYP1B1 were identified in addition to those previously described. The g.4339delG was the most frequent mutation detected in 31 families (34.44%), followed by the p.G61E in seven families (7.77%). The remaining mutations (p.R163C, p.E173K, g.4330-4331delTG, p.E229K, p.R390S, p.R368H, p.R469W, p.C470Y, and g.7901-7913del13bp) were infrequent. One family with the p.R390S mutation showed both PCG and primary open angle glaucoma (POAG) phenotypes. One proband was heterozygous for p.T193K mutation in MYOC. This mutation has been initially associated with POAG, but never with PCG.
conclusionsOur results support that mutations in CYP1B1 are a major cause for PCG in the Moroccan population with a predominance of the g.4339delG mutation. Furthermore, these results demonstrate the diversity of CYP1B1 mutations, while suggesting a modest role of MYOC in Moroccan PCG.
Indexed as
Identifiers
20664688PMC2901188W1539952910What OpenQuestion holds
Registered trials
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