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Título: | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay |
Autor: | Mavillard, Fabiola CSIC ORCID; Madruga, Marcos CSIC; Rivas Infante, Eloy; Servián Morilla, E. CSIC ORCID; Ávila Polo, Rainiero CSIC; Marcos Luque, Irene CSIC; Morón, Francisco J. CSIC ORCID CVN; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | Fecha de publicación: | 2019 | Editor: | American Neurological Association John Wiley & Sons |
Citación: | Annals of Clinical and Translational Neurology 6(11): 2328-2333 (2019) | Resumen: | 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. | Versión del editor: | https://doi.org/10.1002/acn3.50910 | URI: | http://hdl.handle.net/10261/212317 | DOI: | 10.1002/acn3.50910 | Identificadores: | doi: 10.1002/acn3.50910 e-issn: 2328-9503 |
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