Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.

ABSTRACT:

Background

Congenital or childhood cataract is clinically and genetically a highly heterogeneous lens disorder in children. Autosomal dominant inheritance is most common.

Objective

To report the identification of a mutation in the human CRYGS gene.

Subjects and methods

A large six generation family affected by progressive polymorphic cortical cataract was investigated. After excluding loci for known cataract candidate genes using 39 fluorescent microsatellite markers, a whole genome scan was carried out.

Results

The disease was associated with inheritance of a 20.7 cM locus on chromosome 3q26.3-qter, with a maximum LOD score of 6.34 (theta = 0) at marker D3S1602. Haplotype analysis indicated that the disease gene lay at approximately 2.8 Mb physical intervals b

SUBMITTER: Sun H 

PROVIDER: S-EPMC1736139 | biostudies-literature | 2005 Sep

REPOSITORIES: biostudies-literature