Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family

[摘要] Purpose: To describe the firstcataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB.Methods: Homozygosity mappingcomplemented by linkage analysis was performed in a family withautosomal recessive juvenile cataract. Results: A homozygous missense mutationin CRYAB was identified. The mutation replaces a highlyconserved amino acid residue in a dual function domain of the protein.None of the patients has clinically significant myopathy, but theoldest patient (the mother) has retinal pathology. Conclusions: This is the firstreport of a recessive mutation in CRYAB causing cataract. Basedon recent knowledge of the structure and function of this small heatshock protein, we speculate on the potential mutational mechanism.

[学科分类] 生物化学/生物物理