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 journalArticle

205 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

Fingerprint

alpha-Crystallin B Chain
Cataract
Mutation
Genes
Proteins
Sequence Deletion
Vision Disorders
Codon
Genetic Recombination
Exons
Chromosomes

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

Cite this

Berry, V ; Francis, P ; Reddy, M A ; Collyer, D ; Vithana, E ; MacKay, I ; Dawson, G ; Carey, A H ; Moore, A ; Bhattacharya, S S ; Quinlan, R A. / Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. In: American Journal of Human Genetics. 2001 ; Vol. 69, No. 5. pp. 1141-5.
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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.",
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Berry, V, Francis, P, Reddy, MA, Collyer, D, Vithana, E, MacKay, I, Dawson, G, Carey, AH, Moore, A, Bhattacharya, SS & Quinlan, RA 2001, 'Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans', American Journal of Human Genetics, vol. 69, no. 5, pp. 1141-5. https://doi.org/10.1086/324158

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. / Berry, V; Francis, P; Reddy, M A; Collyer, D; Vithana, E; MacKay, I; Dawson, G; Carey, A H; Moore, A; Bhattacharya, S S; Quinlan, R A.

In: American Journal of Human Genetics, Vol. 69, No. 5, 11.2001, p. 1141-5.

Research output: Contribution to journalArticle

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T1 - Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

AU - Berry, V

AU - Francis, P

AU - Reddy, M A

AU - Collyer, D

AU - Vithana, E

AU - MacKay, I

AU - Dawson, G

AU - Carey, A H

AU - Moore, A

AU - Bhattacharya, S S

AU - Quinlan, R A

N1 - Copyright © 2001 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2001/11

Y1 - 2001/11

N2 - 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.

AB - 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.

KW - Amino Acid Sequence

KW - Base Sequence

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KW - Child

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 11/genetics

KW - Crystallins/chemistry

KW - England/ethnology

KW - Exons/genetics

KW - Female

KW - Frameshift Mutation/genetics

KW - Genes, Dominant/genetics

KW - Genetic Markers/genetics

KW - Humans

KW - Lod Score

KW - Male

KW - Molecular Sequence Data

KW - Pedigree

KW - Sequence Alignment

KW - Sequence Deletion/genetics

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JO - American Journal of Human Genetics

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SN - 0002-9297

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