Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

ABSTRACT:

Purpose

To identify the causative genetic mutation among the known cataract candidate genes underlying the observed phenotype in a Basotho family, with congenital nuclear cataracts.

Methods

Because of the small family size, we used the functional candidate gene analysis approach. We screened a Basotho family, clinically documented to have congenital nuclear cataracts, for mutation in the candidate genes CRYG (C & D; Crystallin, gamma C and Crystallin, gamma D), GJA8 (Gap junction protein, alpha 8), CRY (AA & AB; Crystallin, alpha A and Crystallin, alpha B), CRYBA (Crystallin, beta A) and CRY (BB1 & BB2; Crystallin, beta B1 and Crystallin, beta B2) through polymerase chain reaction analyses and sequencing.

Results

Mutation screening identified only one significant alte

SUBMITTER: Mothobi ME 

PROVIDER: S-EPMC2718852 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature