title: A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Xuchen
authors.initials: X
authors.lastname: Ding
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Yongfeng
authors.initials: Y
authors.lastname: Luo
authors.forename: Shanshan
authors.initials: S
authors.lastname: Hu
authors.forename: Guangkai
authors.initials: G
authors.lastname: Zhou
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002681:China; D002882:Chromosomes, Human, Pair 13 / Q000737:chemistry / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; C082917:GJA3 protein, human