A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree

Mol Vis. 2011;17:1343-9. Epub 2011 May 20.

Abstract

Purpose: To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts.

Methods: A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examination. Genomic DNA extracted from peripheral blood was amplified using the polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.

Results: When sequencing the encoding regions of the candidate genes, a novel mutation (c.559C>T) was identified in the gap junction protein alpha 3 (GJA3) gene, which resulted in the substitution of highly conserved proline by serine at codon 187 (P187S). There was no noticeable nucleotide polymorphism in other candidate genes. The mutation co-segregated with all patients, but was absent in the healthy members and 100 normal individuals.

Conclusions: The present study identified a novel mutation (c.559C>T) in the GJA3 gene associated with autosomal dominant pulverulent cataracts in a Chinese family. As the first report to relate p.P187S mutation in GJA3, it expands the mutation spectrum of GJA3 in association with congenital cataracts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cataract / congenital
  • Cataract / genetics*
  • Cataract / pathology
  • China
  • Chromosomes, Human, Pair 13 / chemistry
  • Chromosomes, Human, Pair 13 / genetics*
  • Connexins / genetics*
  • Exons
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • Connexins
  • connexin 46