title: Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
abstract: OBJECTIVE
  To describe the first cataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB.
  
  
  METHODS
  Homozygosity mapping complemented by linkage analysis was performed in a family with autosomal recessive juvenile cataract.
  
  
  RESULTS
  A homozygous missense mutation in CRYAB was identified. The mutation replaces a highly conserved amino acid residue in a dual function domain of the protein. None of the patients has clinically significant myopathy, but the oldest patient (the mother) has retinal pathology.
  
  
  CONCLUSIONS
  This is the first report of a recessive mutation in CRYAB causing cataract. Based on recent knowledge of the structure and function of this small heat shock protein, we speculate on the potential mutational mechanism.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: L Abu
authors.initials: LA
authors.lastname: Safieh
authors.forename: A O
authors.initials: AO
authors.lastname: Khan
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia; D038203:alpha-Crystallin B Chain / Q000235:genetics*
chemical_list: C059215:CRYAB protein, human; D038203:alpha-Crystallin B Chain