title: A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
abstract: OBJECTIVE
  To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family.
  
  
  METHODS
  A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-lamp microscope, and the lenses of the proband's mother were analyzed by scanning electron microscopy. Mutation screening was performed in the cataract candidate genes coding for crystallins and connexin 50 by sequencing of polymerase chain reaction (PCR) products amplified from blood leukocyte DNA samples of eight family members. The identified mutation was then investigated in other participated family members, 200 normal controls, and 40 senile cataract patients by the restriction fragment length polymorphism (RFLP) method.
  
  
  RESULTS
  The structure of the lens opacities of the proband's mother is puffy, and the fibers are tangled under a scanning electron microscope. A novel C>T transition at nucleotide position 827 was determined in the connexin 50 (GJA8) gene. This mutation led to a serine (S) to phenylalanine (F) amino acid substitution in amino acid position 276 where the secondary structure prediction suggested a helix replaced by a sheet. And the mutation was neither found in the 200 controls nor in the 40 senile cataract patients.
  
  
  CONCLUSIONS
  A novel GJA8 gene mutation was found to be associated with hereditary cataract in a Chinese congenital cataract family.
authors.affiliation: Department of Ophthalmology, Zhongnan Hospital, Wuhan, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: Chenling
authors.initials: C
authors.lastname: Xiong
authors.forename: Shui Qing
authors.initials: SQ
authors.lastname: Ye
authors.forename: Yongmei
authors.initials: Y
authors.lastname: Chen
authors.forename: Min
authors.initials: M
authors.lastname: Ke
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002681:China; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007908:Lens, Crystalline / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D016415:Sequence Alignment; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D050505:Mutant Proteins; D000099264:Connexin 50