title: A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
abstract: OBJECTIVE
  Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family.
  
  
  METHODS
  Patients were given physical examinations and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers and logarithm of odds (LOD) scores were calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing.
  
  
  RESULTS
  Linkage to the gap-junction protein α3 (GJA3) locus was verified. Sequencing of GJA3 revealed a G>A transition at nucleotide position c.139, which causes an Asn substitution for the conservative Asp at codon 47 (P.D47N).This mutation is identified in all affected individuals but is not found in 100 control chromosomes.
  
  
  CONCLUSIONS
  Our results identify that the mutation (D47N) in GJA3 is responsible for this Chinese pedigree. It is further identified that GJA3 is responsible for congenital cataract. In our study, the novel mutation broadens the spectrum of GJA3 mutations.
authors.affiliation: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
authors.forename: Guoxing
authors.initials: G
authors.lastname: Yang
authors.forename: Baogang
authors.initials: B
authors.lastname: Xing
authors.forename: Guangcai
authors.initials: G
authors.lastname: Liu
authors.forename: Xiangqing
authors.initials: X
authors.lastname: Lu
authors.forename: Xingang
authors.initials: X
authors.lastname: Jia
authors.forename: Xiangqing
authors.initials: X
authors.lastname: Lu
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wang
authors.forename: Hongyan
authors.initials: H
authors.lastname: Yu
authors.forename: Yanjiang
authors.initials: Y
authors.lastname: Fu
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001216:Asparagine / Q000235:genetics* / Q000378:metabolism; D001224:Aspartic Acid / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000737:chemistry; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007908:Lens, Crystalline / Q000378:metabolism / Q000473:pathology; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D017630:Connexins; C082917:GJA3 protein, human; D001224:Aspartic Acid; D001216:Asparagine