Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
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.
Berry
V
V
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, United Kingdom.
Francis
P
P
Reddy
M A
MA
Collyer
D
D
Vithana
E
E
MacKay
I
I
Dawson
G
G
Carey
A H
AH
Moore
A
A
Bhattacharya
S S
SS
Quinlan
R A
RA
D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003459:Crystallins / Q000737:chemistry / Q000235:genetics*; D004739:England / Q000208:ethnology; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016415:Sequence Alignment; D017384:Sequence Deletion / Q000235:genetics*
D003459:Crystallins; D005819:Genetic Markers