Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

Berry, V; Francis, P; Reddy, MA; Collyer, D; Vithana, E; MacKay, I; Dawson, G; Carey, AH; Moore, A; Bhattacharya, SS; Quinlan, RA

Abstract

Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family. The mutation resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues. This is the first report of a mutation, in this gene, resulting in isolated congenital cataract.

Citation

Berry, V., Francis, P., Reddy, M., Collyer, D., Vithana, E., MacKay, I., …Quinlan, R. (2001). Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. American Journal of Human Genetics, 69(5), 1141-1145. https://doi.org/10.1086/324158

• Journal Article Type: Article
• Publication Date: Nov 1, 2001
• Deposit Date: Jun 23, 2008
• Publicly Available Date: Feb 15, 2010
• Journal: American Journal of Human Genetics
• Print ISSN: 0002-9297
• Publisher: Cell Press
• Peer Reviewed: Peer Reviewed
• Volume: 69
• Issue: 5
• Pages: 1141-1145
• DOI: https://doi.org/10.1086/324158
• Public URL: https://durham-repository.worktribe.com/output/1582386
• Publisher URL: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=11577372