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

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

Research output: Contribution to journalArticlepeer-review

213 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1141-5
Number of pages5
JournalAmerican Journal of Human Genetics
Volume69
Issue number5
DOIs
Publication statusPrint publication - Nov 2001
Externally publishedYes

Bibliographical note

Copyright © 2001 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Keywords

  • Amino Acid Sequence
  • Base Sequence
  • Cataract/congenital
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11/genetics
  • Crystallins/chemistry
  • 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

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