title: A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
abstract: OBJECTIVE
  To identify the genetic defect in a three-generation Chinese family with congenital cataracts.
  
  
  METHODS
  The phenotype of a three-generation Chinese family with congenital cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of the mutant gene.
  
  
  RESULTS
  The phenotype of the family was identified as Y-suture cataract by using slit-lamp photography. Direct sequencing revealed a c.161G>C transversion in exon 1 of crystallin, alpha A (CRYAA). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54P caused an increase in local hydrophobicity around the substitution site.
  
  
  CONCLUSIONS
  This study identified a novel disease-causing mutation c.161G>C (p.R54P) in CRYAA in a Chinese family with autosomal dominant Y-suture cataracts. This is the first report relating a G→C mutation in CRYAA leading to congenital Y-suture cataract.
authors.affiliation: National Research Institute for Family Planning, Department of Genetics, Beiing 100730, China.
authors.forename: Dongmei
authors.initials: D
authors.lastname: Su
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Guo
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Lina
authors.initials: L
authors.lastname: Guan
authors.forename: Siquan
authors.initials: S
authors.lastname: Zhu
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D017124:Conserved Sequence; D003459:Crystallins / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: C511246:CRYAA protein, human; D003459:Crystallins