ArticleMolecular vision2014
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Pooled it
- Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.Human mutation · 2026Article
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- Impact ofSaudi journal of biological sciences · 2023Article
- Genetic heterogeneity of primary open-angle glaucoma in Pakistan.Saudi journal of biological sciences · 2023Article
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- Article
- First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.Journal of clinical medicine · 2021Article
- SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.Investigative ophthalmology & visual science · 2020Article
- Updates on the molecular genetics of primary congenital glaucoma (Review).Experimental and therapeutic medicine · 2020Review
- Identities and frequencies of variants inMolecular vision · 2019Article
- Two novel variants inInternational journal of ophthalmology · 2019Article
- Analysis ofJournal of pediatric genetics · 2017Review
- A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.Human genome variation · 2016Article
- Article
- 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
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study aimed to investigate the role of CYP1B1 mutations in primary congenital glaucoma (PCG) in Pakistani patients.
methodsAfter consent was received, 20 families with at least more than one member affected with primary congenital glaucoma were enrolled in the study. The disease was confirmed with standard ophthalmological investigations. Genomic DNA was extracted from whole blood for localization of linkage and sequencing. Bioinformatics tools were used to assess the predicted pathological role of novel variants.
resultsTen out of 20 families (50%, 10/20) showed homozygosity with CYP1B1-linked short tandem repeat (STR) markers. On direct sequencing of the CYP1B1 gene in the linked families, six mutations, including two novel pathogenic variants, were identified. p. R390H was the most frequently found mutation in five families (50%, 5/10), whereas c.868_869insC, p.E229K, and p.A115P were found once in three families. Two novel mutations, a missense mutation (p.G36D) and an in-frame deletion mutation (p.G67-A70del), were segregated with disease phenotype in two families. Age of disease onset was congenital in all mutations; however, disease severity and response to clinical interventions varied among the mutations and families. Haplotype analysis using five polymorphisms revealed a distinct haplotype for a common mutation.
conclusionsThis is the largest cohort of Pakistani patients with PCG to be genetically screened for CYP1B1 mutations. Identifying common mutation and genotype-phenotype correlations may help in genetic testing and better prognosis for the disease. Novel mutations identified in the study may help in better understanding the pathophysiology of CYP1B1-associated glaucoma.
Indexed as
Identifiers
25018621PMC4087121W5145305What OpenQuestion holds
Registered trials
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