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A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22

Item Type:Article
Title:A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22
Creators Name:Vanita, A. and Singh, J.R. and Sarhadi, V.K. and Singh, D. and Reis, A. and Rueschendorf, F. and Becker-Follmann, J. and Jung, M. and Sperling, K.
Abstract:Congenital cataract is a clinically and genetically highly heterogeneous eye disorder, with autosomal dominant inheritance being most common. We investigated a large seven-generation family with 74 individuals affected by autosomal dominant congenital cataract (ADCC). The phenotype in this family can be described as "central pouchlike" cataract with sutural opacities, and it differs from the other mapped cataracts. We performed linkage analysis with microsatellite markers in this family and excluded the known candidate genes. A genomewide search revealed linkage to markers on chromosome 15, with a maximum two-point LOD score of 5.98 at straight theta=0 with marker D15S117. Multipoint analysis also gave a maximum LOD score of 5.98 at D15S117. Multipoint and haplotype analysis narrowed the cataract locus to a 10-cM region between markers D15S209 and D15S1036, closely linked to marker D15S117 in q21-q22 region of chromosome 15. This is the first report of a gene for a clinically new type of ADCC at 15q21-22 locus.
Keywords:Cataract, Chromosome Mapping, Family Health, Haplotypes, Linkage (Genetics), Lod Score, Microsatellite Repeats, Molecular Sequence Data, Pedigree
Source:American Journal of Human Genetics
Publisher:University of Chicago Press
Page Range:509-514
Date:February 2001
Official Publication:https://doi.org/10.1086/318189
PubMed:View item in PubMed

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