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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

AuthorsMavillard, Fabiola; Madruga, Marcos; Rivas Infante, Eloy; Servián Morilla, E. ; Ávila Polo, Rainiero; Marcos Luque, Irene; Morón, Francisco J.; Paradas, Carmen; Cabrera-Serrano, Macarena
Issue Date2019
PublisherAmerican Neurological Association
John Wiley & Sons
CitationAnnals of Clinical and Translational Neurology 6(11): 2328-2333 (2019)
AbstractCAPN3 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.
Publisher version (URL)https://doi.org/10.1002/acn3.50910
Identifiersdoi: 10.1002/acn3.50910
e-issn: 2328-9503
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