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

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.

SUBMITTER: Berry V

PROVIDER: S-EPMC1274358 | biostudies-literature | 2001 Nov

REPOSITORIES: biostudies-literature

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

Berry V V Francis P P Reddy M A MA Collyer D D Vithana E E MacKay I I Dawson G G Carey A H AH Moore A A Bhattacharya S S SS Quinlan R A RA

American journal of human genetics 20010927 5

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 th ...[more]

PMID: 11577372

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