Article
An in-frame pseudoexon activation caused by a novel deep-intronic variant in the dysferlin gene.
Annals of clinical and translational neurology - 1 Feb 2023
Sun Chengyue, Xie Zhiying, Cong Lu, Xu Yan, Liu Zunjing
Abstract excerpt
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep-intronic splice-altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy. He remained genetically unsolved after routine exonic detection approaches that only detected a novel heterozygous frameshift variant (c.407dup, p.Thr137Tyrfs*11) in DYSF exon 5....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.