The UCMD-Causing <i>COL6A1</i> (<i>c</i>.930 + 189<i>C</i> > <i>T</i>) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI <i>α</i>1 Chains.

ABSTRACT: Collagen VI is a unique member of the collagen family. Its assembly is a complex multistep process and the vulnerability of the process is manifested in muscular diseases. Mutations in COL6A1, COL6A2, and COL6A3 lead to the severe Ullrich Congenital Muscular Dystrophy (UCMD) and a spectrum of disease of varying severity including the milder Bethlem muscular dystrophy. The recently identified dominant intronic mutation in COL6A1 (c.930 + 189C > T) leads to the partial in-frame insertion of a pseudoexon between exon 11 and exon 12. The pseudoexon is translated into 24 amino acid residues in the N-terminal region of the triple helix and results in the interruption of the typical G-X-Y motif. This recurrent de novo mutation leads to UCMD

SUBMITTER: Freiburg CD 

PROVIDER: S-EPMC11919215 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature