Okumiya T, Takenaka T, Ishii S, Kase R, Kamei S, Sakuraba H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Jpn J Hum Genet. 1996 Sep;41(3):313-21. doi: 10.1007/BF01913174.
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.
