RT Journal Article
T1 NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
A1 Mavillard, Fabiola
A1 Madruga-Garrido, Marcos
A1 Rivas, Eloy
A1 Servián-Morilla, Emilia
A1 Ávila-Polo, Rainiero
A1 Marcos, Irene
A1 Morón, Francisco J
A1 Paradas, Carmen
A1 Cabrera-Serrano, Macarena
AB 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.
YR 2019
FD 2019-10-14
LK http://hdl.handle.net/10668/14778
UL http://hdl.handle.net/10668/14778
LA en
DS RISalud
RD Apr 7, 2025