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

作者：Berry Vanita^*; Ionides Alexander C W; Moore Anthony T; Bhattacharya Shomi S

来源：European Journal of Human Genetics, 2011, 19(12): 1289-1291.

DOI：10.1038/ejhg.2011.130

• cerulean cataract
• linkage
• heterogeneity

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 theta-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. European Journal of Human Genetics (2011) 19, 1289-1291; doi: 10.1038/ejhg.2011.130; published online 6 July 2011

• 出版日期2011-12