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Am J Hum Genet. 2001 Nov;69(5):1141-5. Epub 2001 Sep 27.

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

Author information

1
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, United Kingdom.

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.

PMID:
11577372
PMCID:
PMC1274358
DOI:
10.1086/324158
[Indexed for MEDLINE]
Free PMC Article

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