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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

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


Authors

V Berry

P Francis

MA Reddy

D Collyer

E Vithana

I MacKay

G Dawson

AH Carey

A Moore

SS Bhattacharya



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
Publisher URL http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=11577372

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Copyright Statement
© 2001 by The American Society of Human Genetics.





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