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.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, United Kingdom.
authors.forename: V
authors.initials: V
authors.lastname: Berry
authors.forename: P
authors.initials: P
authors.lastname: Francis
authors.forename: M A
authors.initials: MA
authors.lastname: Reddy
authors.forename: D
authors.initials: D
authors.lastname: Collyer
authors.forename: E
authors.initials: E
authors.lastname: Vithana
authors.forename: I
authors.initials: I
authors.lastname: MacKay
authors.forename: G
authors.initials: G
authors.lastname: Dawson
authors.forename: A H
authors.initials: AH
authors.lastname: Carey
authors.forename: A
authors.initials: A
authors.lastname: Moore
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: R A
authors.initials: RA
authors.lastname: Quinlan
mesh_terms: 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*
chemical_list: D003459:Crystallins; D005819:Genetic Markers