A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

ABSTRACT:

Purpose

To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).

Methods

All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.

Results

Direct sequencing of the encoding regions of the candidate genes revealed a heterozygous mutation c.592C-->T in exon 2 of the gap junction protein, alpha 8 (GJA8) gene. This mutation was responsible for the familial disorder through the substitution of a highly conserved arginine to tryptophan at codon 198 (p.R198W). This chang

SUBMITTER: Hu S 

PROVIDER: S-EPMC2927419 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature