ArticleMolecular vision2010
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
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 10 papers.
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Who cites it
10 citing papers in PubMed.
- Vision-related convergent gene losses revealeLife · 2022Article
- 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
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- Article
- A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.PloS one · 2016Article
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- iSyTE: integrated Systems Tool for Eye gene discovery.Investigative ophthalmology & visual science · 2012Article
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.
methodsAll affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosomal recessive model of inheritance.
resultsOphthalmic examination suggested that affected individuals have bilateral cataracts. Linkage analysis localized the critical interval to chromosome 8p with LOD scores of 3.19, and 3.08 at θ=0, obtained with markers D8S549 and D8S550, respectively. Haplotype analyses refined the critical interval to 37.92 cM (16.28 Mb) region, flanked by markers, D8S277 proximally and D8S1734 distally.
conclusionsHere, we report a new locus for autosomal recessive congenital cataract mapped to chromosome 8p in a consanguineous Pakistani family.
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