title: A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
abstract: Cataracts are the commonest cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease that most often shows autosomal dominant inheritance. In this study, we report the identification of a novel locus for cerulean cataract type 5 (CCA5), also known as blue-dot cataract on chromosome 12q24. To date, four loci for autosomal dominant congenital cerulean cataract have been mapped on chromosomes, 17q24, 22q11.2-12.2, 2q33-35 and 16q23.1. To map this locus we performed genetic linkage analysis using microsatellite markers in a five-generation English family. After the exclusion of all known loci and several candidate genes we obtained significantly positive LOD score (Z) for marker D12S1611 (Z(max)=3.60; at θ=0). Haplotype data indicated that CCA5 locus lies within a region of 14.3 Mb interval between the markers D12S1718 and D12S1723. Our data are strongly suggestive of a new locus for CCA5 on chromosome 12.
authors: Department of Genetics, Institute of Ophthalmology, University College London, London, UK. v.berry@ucl.ac.uk
authors: Vanita
authors: V
authors: Berry
authors: Alexander C W
authors: AC
authors: Ionides
authors: Anthony T
authors: AT
authors: Moore
authors: Shomi S
authors: SS
authors: Bhattacharya
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D002881:Chromosomes, Human, Pair 12; D005799:Genes, Dominant; D056726:Genetic Association Studies; D008040:Genetic Linkage; D056426:Genetic Loci; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D055815:Young Adult