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Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family
PURPOSE: 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 identif...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684560/ https://www.ncbi.nlm.nih.gov/pubmed/19461931 |
Sumario: | PURPOSE: 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. |
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