title: Mutation analysis of 12 genes in Chinese families with congenital cataracts.
abstract: OBJECTIVE
  To identify mutations in 12 genes in Chinese families with congenital cataracts.
  
  
  METHODS
  Twenty five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CRYAA), alpha B crystallin (CRYAB), beta A1 crystallin (CRYBA1), beta A4 crystallin (CRYBA4), beta B1 crystallin (CRYBB1), beta B2 crystallin (CRYBB2), beta B3 crystallin (CRYBB3), gamma C crystallin (CRYGC), gamma D crystallin (CRYGD), gamma S crystallin (CRYGS), alpha 3 gap junction protein (GJA3), and alpha 8 gap junction protein (GJA8) genes. Novel variants were further evaluated in 96 normal controls.
  
  
  RESULTS
  Nine mutations were identified in 10 of the 25 families (40%), including 5 novel (c.350_352delGCT in CRYAA, c.205C>T in CRYAB, c.106G>C in CRYGD, c.77A>G in CRYGS, c.1143_1165del23 in GJA3) and 4 known (c.292G>A in CRYAA; c.215+1G>A and c.272_274delGAG in CRYBA1, and c.176C>T in GJA3). All novel mutations were predicted to be pathogenic and were not present in 96 controls.
  
  
  CONCLUSIONS
  Mutations in the 12 genes encoding crystallins and connexins were responsible for 40% Chinese families with congenital cataracts. Our results enriched our knowledge on the molecular basis of congenital cataracts in Chinese population.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Wenmin
authors.initials: W
authors.lastname: Sun
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D003459:Crystallins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016415:Sequence Alignment; D038203:alpha-Crystallin B Chain / Q000235:genetics*; D038222:gamma-Crystallins / Q000235:genetics*
chemical_list: C511246:CRYAA protein, human; C059215:CRYAB protein, human; C504903:CRYGD protein, human; D017630:Connexins; D003459:Crystallins; D038203:alpha-Crystallin B Chain; D038222:gamma-Crystallins; C077648:CRYGS protein, human