ArticleHuman genome variation2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Glaucoma following cataract surgery in pediatric patients: a systematic review of incidence, risk factors, and management strategies.BMC ophthalmology · 2026Pooled it
- Pooled it
- A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.Molecular biology reports · 2025Article
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- Challenges and Opportunities in P450 Research on the Eye.Drug metabolism and disposition: the biological fate of chemicals · 2023Review
- Pediatric Glaucoma-From Screening, Early Detection to Management.Children (Basel, Switzerland) · 2023Review
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
- Article
- Novel mutations inMolecular vision · 2020Article
- Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.RSC advances · 2019Review
- Identities and frequencies of variants inMolecular vision · 2019Article
- Two novel variants inInternational journal of ophthalmology · 2019Article
- Compound heterozygous mutations inInternational journal of ophthalmology · 2019Article
- In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.International ophthalmology · 2018Article
- Primary congenital and developmental glaucomas.Human molecular genetics · 2017Review
- 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 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a molecular level. Ophthalmic examinations, including slit-lamp microscopy and applanation tonometry, were performed to characterize the causal phenotype and confirm that affected individuals fulfilled the diagnostic criteria for PCG. Subsequently, exclusion analysis was completed with fluorescently labeled short tandem repeat markers, followed by Sanger sequencing to identify pathogenic variants. Exclusion analysis suggested linkage to the CYP1B1 locus, with positive two-point logarithm of odds scores in 23 families, while Sanger sequencing identified a total of 11 variants, including two novel mutations, in 23 families. All mutations segregated with the disease phenotype in their respective families. These included the following seven missense mutations: p.Y81N, p.E229K, p.R368H, p.R390H, p.W434R, p.R444Q and p.R469W, as well as one nonsense mutation, p.Q37*, and three frameshift mutations, p.W246Lfs81*, p.T404Sfs30* and p.P442Qfs15*. In conclusion, we identified a total of 11 mutations, reconfirming the genetic heterogeneity of CYP1B1 in the pathogenesis of PCG. To the best of our knowledge, this is the largest study investigating the contribution of CYP1B1 to the pathogenesis of PCG in the Pakistani population.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.