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).
|Number of pages||1|
|Publication status||Published - 1998|