Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.

ABSTRACT:

Purpose

To identify mutations in 6 genes of 9 Chinese families with congenital cataract and microcornea.

Methods

Nine unrelated families with congenital cataract and microcornea were collected. Cycle sequencing was used to detect variants in the coding and adjacent regions of the crystallin alpha A (CRYAA), crystallin beta B1 (CRYBB1), crystallin beta A4 (CRYBA4), crystallin gamma C (CRYGC), crystallin gamma D (CRYGD), and gap junction protein alpha 8 (GJA8) genes.

Results

Upon complete analysis of the 6 genes, three mutations in 2 genes were detected in 3 families, respectively. These mutations were not present in 96 normal controls. Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two fa

SUBMITTER: Sun W 

PROVIDER: S-EPMC3115747 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature