We have located links that may give you full text access.
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
Molecular Vision 2009
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.
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.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app