%0 Journal Article
%A Mavillard, Fabiola
%A Madruga-Garrido, Marcos
%A Rivas, Eloy
%A Servián-Morilla, Emilia
%A Ávila-Polo, Rainiero
%A Marcos, Irene
%A Morón, Francisco J
%A Paradas, Carmen
%A Cabrera-Serrano, Macarena
%T NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
%D 2019
%U http://hdl.handle.net/10668/14778
%X 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.
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