Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

ABSTRACT:

Purpose

To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract.

Methods

Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for the already known candidate gene loci was performed in combination with mutation screening by bidirectional sequencing.

Results

Affected individuals had bilateral congenital cataract. Cataract was of opalescent type with the central nuclear region denser than the periphery. Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gam

SUBMITTER: Vanita V 

PROVIDER: S-EPMC2650718 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature