Matsumura T, Osaka H, Sugiyama N, Kawanishi C, Maruyama Y, Suzuki K, Onishi H, Yamada Y, Morita M, Aoki M, Kosaka K
Department of Psychiatry, Yokohoma City University, 3-9 Fikuura, Kanazawaku, Yokohoma 236, Japan.
Hum Mutat. 1998;11(6):483. doi: 10.1002/(SICI)1098-1004(1998)11:6<483::AID-HUMU17>3.0.CO;2-5.
We found a novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A (alpha-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift resulting in premature termination. This mutation gives rise to a rare aberrant splicing (Simultaneous 3' destruction and 3' creation).
