title: A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
abstract: OBJECTIVE
  To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract.
  
  
  METHODS
  Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing.
  
  
  RESULTS
  Affected individuals had nuclear and zonular pulverulent cataract with Y-sutural opacities. Sequencing of the candidate genes revealed a heterozygous c. 139G>C change in the coding sequence of the connexin 50 gene (gap junction protein, alpha 8 [GJA8]), which results in the substitution of a wild-type aspartic acid with a histidine (D47H). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls.
  
  
  CONCLUSIONS
  Our study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.
authors.affiliation: Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China.
authors.forename: Jinyu
authors.initials: J
authors.lastname: Li
authors.forename: Qiwei
authors.initials: Q
authors.lastname: Wang
authors.forename: Qiuyue
authors.initials: Q
authors.lastname: Fu
authors.forename: Yanan
authors.initials: Y
authors.lastname: Zhu
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhai
authors.forename: Yinhui
authors.initials: Y
authors.lastname: Yu
authors.forename: Kai
authors.initials: K
authors.lastname: Zhang
authors.forename: Ke
authors.initials: K
authors.lastname: Yao
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D019295:Computational Biology; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D003941:Diagnostic Techniques, Ophthalmological; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D000099264:Connexin 50