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

Am J Hum Genet. 2001 Nov;69(5):1141-5. doi: 10.1086/324158. Epub 2001 Sep 27.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cataract / congenital*
  • Cataract / genetics*
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Crystallins / chemistry
  • Crystallins / genetics*
  • England / ethnology
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Genes, Dominant / genetics*
  • Genetic Markers / genetics
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Alignment
  • Sequence Deletion / genetics*

Substances

  • Crystallins
  • Genetic Markers

Associated data

  • OMIM/123590