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Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

✍ Scribed by Takehiko Matsumura; Hitoshi Osaka; Naoya Sugiyama; Chiaki Kawanishi; Yasuko Maruyama; Kyoko Suzuki; Hideki Onishi; Yoshiteru Yamada; Mitsuya Morita; Masashi Aoki; Kenji Kosaka

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
81 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-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).

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