Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.

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

UniProtKB (1) Mapped (2) rdf/xml

Berry V., Francis P., Reddy M.A., Collyer D., Vithana E., MacKay I., Dawson G., Carey A.H., Moore A., Bhattacharya S.S., Quinlan R.A.

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.

Am. J. Hum. Genet. 69:1141-1145(2001) [PubMed] [Europe PMC]