Mutation analysis of 12 genes in Chinese families with congenital cataracts.

ABSTRACT:

Purpose

To identify mutations in 12 genes in Chinese families with congenital cataracts.

Methods

Twenty five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CRYAA), alpha B crystallin (CRYAB), beta A1 crystallin (CRYBA1), beta A4 crystallin (CRYBA4), beta B1 crystallin (CRYBB1), beta B2 crystallin (CRYBB2), beta B3 crystallin (CRYBB3), gamma C crystallin (CRYGC), gamma D crystallin (CRYGD), gamma S crystallin (CRYGS), alpha 3 gap junction protein (GJA3), and alpha 8 gap junction protein (GJA8) genes. Novel variants were further evaluated in 96 normal controls.

Results

Nine mutations were identified in 10 of the 25 families (40%), i

SUBMITTER: Sun W 

PROVIDER: S-EPMC3159683 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature