A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

ABSTRACT:

Purpose

To identify the genetic lesions for congenital coralliform cataract.

Methods

Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellite markers. Sequence variations were identified. Recombinant FLAG-tagged wild type or mutant gammaD-crystallin was expressed in human lens epithelial cells and COS-7 cells. Protein solubility and intracellular distribution were analyzed by western blotting and immunofluorescence, respectively.

Results

A novel heterozygous change, c.43C>A (R15S) of gammaD-crystallin (CRYGD) co-segre

SUBMITTER: Zhang LY 

PROVIDER: S-EPMC2722711 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature