ArticleMolecular vision2010
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
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 23 papers.
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Who cites it
23 citing papers in PubMed.
- Trial
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Mutations inMolecular vision · 2020Article
- Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.PloS one · 2019Article
- Fine mapping of chromosome 9 locus associated with congenital cataract.International ophthalmology · 2018Article
- Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Investigative ophthalmology & visual science · 2017Article
- Article
- Article
- A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.PloS one · 2016Article
- Article
- Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.PloS one · 2015Article
- Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.Molecular vision · 2013Article
- iSyTE: integrated Systems Tool for Eye gene discovery.Investigative ophthalmology & visual science · 2012Article
- Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.Archives of ophthalmology (Chicago, Ill. : 1960) · 2011Article
- Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.The British journal of ophthalmology · 2011Article
- Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.Investigative ophthalmology & visual science · 2011Article
- Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.Molecular vision · 2011Article
- Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Molecular vision · 2010Article
- Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.Molecular vision · 2010Article
- A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.American journal of human genetics · 2010Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
purposeTo identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.
methodsAll affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated.
resultsThe clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at theta=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108.
conclusionsWe have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.
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Identifiers
20161816PMC2822550What OpenQuestion holds
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.