A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease

Abstract excerpt

Fabry disease (FD), a rare X-linked α-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types. Here we report a novel splicing mutation (c.801+1G>A) that results in alternative splicing in GLA of a FD patient with variable phenotypic presentations of renal involvement. Sequencing of the RT-PCR products from the patient’s blood...

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