title: A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
abstract: OBJECTIVE
  To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts.
  
  
  METHODS
  A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation.
  
  
  RESULTS
  The congenital cataract phenotype of the family was identified as Y-suture cataract type by using slit-lamp photography. Direct sequencing revealed a G→T splice site mutation in crystallin, beta A1 (CRYBA1/A3).This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls.
  
  
  CONCLUSIONS
  Our study identified a novel type of a splice site mutation in CRYBA1/A3 .The mutation was responsible for the congenital Y-suture cataracts in the family. This is the first report relating a G→T mutation of CRYBA1/A3 to congenital Y-suture cataract.
authors.affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
authors.forename: Zhenfei
authors.initials: Z
authors.lastname: Yang
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Zicheng
authors.initials: Z
authors.lastname: Ma
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Guo
authors.forename: Siquan
authors.initials: S
authors.lastname: Zhu
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D007908:Lens, Crystalline / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D038205:beta-Crystallin A Chain / Q000235:genetics
chemical_list: C489108:CRYBA1 protein, human; D038205:beta-Crystallin A Chain