Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.

作者信息

Matsumura T, Osaka H, Sugiyama N, Kawanishi C, Maruyama Y, Suzuki K, Onishi H, Yamada Y, Morita M, Aoki M, Kosaka K

机构信息

Department of Psychiatry, Yokohoma City University, 3-9 Fikuura, Kanazawaku, Yokohoma 236, Japan.

出版信息

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).