A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

Eur J Hum Genet. 2011 Dec;19(12):1289-91. doi: 10.1038/ejhg.2011.130. Epub 2011 Jul 6.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cataract / congenital*
  • Cataract / genetics
  • Child
  • Chromosomes, Human, Pair 12*
  • Genes, Dominant*
  • Genetic Association Studies
  • Genetic Linkage
  • Genetic Loci*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Young Adult

Supplementary concepts

  • Cerulean cataract