title: A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.
abstract: OBJECTIVE
  To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts.
  
  
  METHODS
  Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation.
  
  
  RESULTS
  Lens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent cataracts with 'Y' sutural opacities, and also progressive developing peripheral cortical opacities. Direct gene sequencing showed a G>A transition at the donor splice site of intron 3 (IVS3+1 G>A) of the βA1/A3-crystallin gene (CRYBA3/A1) in this Chinese autosomal dominant childhood cataract family, and the maximum heterogeneity logarithm of odds (HLOD) score obtained by multi-point analysis was detected at marker locus D17S1800 (HLOD=3.005; α=1.000).
  
  
  CONCLUSIONS
  To our knowledge, this is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. This finding expands the spectrum of cataract phenotypes caused by the IVS3+1 G>A mutation of CRYBA3/A1, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the cataractogenesis in different ethnic backgrounds.
authors.affiliation: Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China.
authors.forename: Yanan
authors.initials: Y
authors.lastname: Zhu
authors.forename: Xingchao
authors.initials: X
authors.lastname: Shentu
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Jinyu
authors.initials: J
authors.lastname: Li
authors.forename: Chongfei
authors.initials: C
authors.lastname: Jin
authors.forename: Ke
authors.initials: K
authors.lastname: Yao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002648:Child; D002681:China; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D018450:Disease Progression; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D038205:beta-Crystallin A Chain / Q000235:genetics*
chemical_list: C489108:CRYBA1 protein, human; D022821:RNA Splice Sites; D038205:beta-Crystallin A Chain