Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

ABSTRACT:

Objective

Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), distal myopathy with anterior tibial onset (DMAT)), typically with early adult onset. At least 416 pathogenic dysferlin mutations are known, but for approximately 17% of patients, one or both of their pathogenic variants remain undefined following standard exon sequencing methods that interrogate exons and nearby flanking intronic regions but not the majority of intronic regions.

Methods

We sequenced RNA from myogenic cells to identify a novel dysferlin pathogenic variant in two affected si

SUBMITTER: Dominov JA 

PROVIDER: S-EPMC6469257 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature