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

doi:10.1086/324158

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 journal › Article › peer-review

237 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 language	English
Pages (from-to)	1141-5
Number of pages	5
Journal	American Journal of Human Genetics
Volume	69
Issue number	5
DOIs	https://doi.org/10.1086/324158
Publication status	Print publication - Nov 2001
Externally published	Yes

Bibliographical note

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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10.1086/324158

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title = "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.",

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",

author = "V Berry and P Francis and Reddy, {M A} and D Collyer and E Vithana and I MacKay and G Dawson and Carey, {A H} and A Moore and Bhattacharya, {S S} and Quinlan, {R A}",

year = "2001",

month = nov,

doi = "10.1086/324158",

language = "English",

volume = "69",

pages = "1141--5",

journal = "American Journal of Human Genetics",

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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

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

KW - Cataract/congenital

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

U2 - 10.1086/324158

DO - 10.1086/324158

M3 - Article

C2 - 11577372

SN - 0002-9297

VL - 69

SP - 1141

EP - 1145

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

Abstract

Bibliographical note

Keywords

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