title: 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.
abstract: 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).
authors: Department of Psychiatry, Yokohoma City University, 3-9 Fikuura, Kanazawaku, Yokohoma 236, Japan.
authors: T
authors: T
authors: Matsumura
authors: H
authors: H
authors: Osaka
authors: N
authors: N
authors: Sugiyama
authors: C
authors: C
authors: Kawanishi
authors: Y
authors: Y
authors: Maruyama
authors: K
authors: K
authors: Suzuki
authors: H
authors: H
authors: Onishi
authors: Y
authors: Y
authors: Yamada
authors: M
authors: M
authors: Morita
authors: M
authors: M
authors: Aoki
authors: K
authors: K
authors: Kosaka
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase