Article
Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2025
Lee Seung-Ah, Ogawa Megumu, Saito Yoshihiko, Shimazaki Rui, Awaya Tomonari, Hosokawa Motoyasu, Kurosawa Ryo, Ohara Hiroaki, Takeuchi Akihide, Hayashi Shinichiro, Goto Yu-Ichi, Hagiwara Masatoshi, Nishino Ichizo, Noguchi Satoru
Abstract excerpt
PURPOSE: Collagen VI-related muscular dystrophies, characterized by proximal muscle weakness and joint contractures, are caused by pathogenic variants in the genes, COL6A1 to COL6A3. A monoallelic variant at the last nucleotide of a COL6A1 exon was initially classified as a missense variant but acted as a splicing variant, resulting in exon skipping. Here, we evaluated whether single-nucleotide variants at the...
Read the complete abstract on PubMedTopics
- Humans
- Collagen Type VI
- Exons
- Muscular Dystrophies