title: Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
abstract: Four alpha-galactosidase gene mutations were identified in Japanese male patients with Fabry disease who had no detectable alpha-galactosidase activity. Two of them were novel mutations, an 11-bp deletion in exon 2 and a g-1 to t substitution at the 3' end of the splice acceptor site in intron 1. The former caused a frameshift and led to the creation of a new stop codon at codon 118. The latter was predicted to provoke aberrant mRNA splicing followed by accelerated degradation of the mRNA. A nonsense mutation, R301X, and a 2-bp deletion starting at nucleotide position 718, which were reported previously, were also identified in unrelated patients.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Okumiya
authors.forename: T
authors.initials: T
authors.lastname: Takenaka
authors.forename: S
authors.initials: S
authors.lastname: Ishii
authors.forename: R
authors.initials: R
authors.lastname: Kase
authors.forename: S
authors.initials: S
authors.lastname: Kamei
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000199:Actins / Q000235:genetics; D000328:Adult; D004587:Electrophoresis, Agar Gel; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D016296:Mutagenesis; D012333:RNA, Messenger / Q000737:chemistry; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000199:Actins; D012333:RNA, Messenger; D000519:alpha-Galactosidase