All reported non-canonical splice site variants in GLA cause aberrant splicing.

ABSTRACT:

Background

Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities in GLA. Most were found within canonical splice sites, which are highly conserved GT and AG splice acceptor and donor dinucleotides, whereas one-third were located outside canonical splice sites, making it difficult to interpret their pathogenicity. In this study, we aimed to investigate the genetic pathogenicity of variants located in non-canonical splice sites within the GLA gene.

Methods

13 variants, including four deep intronic variants, w

SUBMITTER: Okada E 

PROVIDER: S-EPMC10432374 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature