ArticleMolecular vision2011
An autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.G3 (Bethesda, Md.) · 2014Article
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- iSyTE: integrated Systems Tool for Eye gene discovery.Investigative ophthalmology & visual science · 2012Article
- A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.Molecular vision · 2012Article
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
purposeThe aim of this study was to map the disease locus of autosomal dominant cataracts (ADC) in a Chinese family.
methodsA four-generation family with multiple individuals affected by ADC was investigated. Genomic DNA was collected from 22 family members. A gene-scan at known candidate ADC loci was performed. To achieve fine-mapping we genotyped fourteen STR markers at the critical region of 19q. The two-point logarithm of odds (LOD) score was calculated using Linkage Software Package Version 5.1 for linkage analysis. The haplotype was constructed using Cyrillic software.
resultsTen members of this Chinese family were affected by nuclear cataracts. Initially, linkage analysis revealed a significant LOD score of 3.82 at the STR marker D19S418. Subsequently, after refine-marker analysis, a maximum LOD score (Z(max)=4.25) was obtained at the D19S877 (θ=0). Haplotype analysis also confirmed the locus and further narrowed it down to a critical interval from the marker D19S924 to the 19qter.
conclusionsWe have successfully mapped an ADC locus to 19q13-qter. Previous studies have identified three cataract loci on 19q; however, we found no overlap between the locus of this study and any of the previously identified loci. We therefore suggest that the 19q13-qter locus in this family is a new locus for ADC.
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Identifiers
21283564PMC3030603W129195118What OpenQuestion holds
Registered trials
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