Berry, V. and Francis, P. and Reddy, M. A. and Collyer, D. and Vithana, E. and MacKay, I and Dawson, G. and Carey, A. H. and Moore, A. and Bhattacharya, S. S. and Quinlan, R. A. (2001) 'Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.', American journal of human genetics., 69 (5). pp. 1141-1145.
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.
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|Publisher Web site:||http://dx.doi.org/10.1086/324158|
|Publisher statement:||© 2001 by The American Society of Human Genetics.|
|Record Created:||23 Jun 2008|
|Last Modified:||26 Aug 2011 09:39|
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