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

V Berry, P Francis, MA Reddy, D Collyer… - The American Journal of …, 2001 - cell.com
V Berry, P Francis, MA Reddy, D Collyer, E Vithana, I MacKay, G Dawson, AH Carey…
The American Journal of Human Genetics, 2001cell.com
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 …
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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