Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
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.
Safieh
L Abu
LA
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khan
A O
AO
Alkuraya
F S
FS
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*
C059215:CRYAB protein, human; D038203:alpha-Crystallin B Chain