1. NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
- Author
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Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, and Cabrera-Serrano M
- Subjects
- Adolescent, Child, Female, Founder Effect, Humans, Introns genetics, Male, Mutation, RNA Splicing, RNA Stability genetics, Roma genetics, Calpain genetics, Muscle Proteins genetics, Muscular Dystrophies, Limb-Girdle genetics
- Abstract
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported., (© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.)
- Published
- 2019
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