The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

J. Martone; F. Briganti; I. Legnini; M. Morlando; E. Picillo; O. Sthandier; L. Politano; I. Bozzoni

doi:10.1038/ncomms10488

Nature Communications (Jan 2016)

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

J. Martone,
F. Briganti,
I. Legnini,
M. Morlando,
E. Picillo,
O. Sthandier,
L. Politano,
I. Bozzoni

Affiliations

J. Martone: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome
F. Briganti: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome
I. Legnini: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome
M. Morlando: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome
E. Picillo: Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Napoli
O. Sthandier: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome
L. Politano: Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Napoli
I. Bozzoni: Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome

DOI: https://doi.org/10.1038/ncomms10488
Journal volume & issue: Vol. 7, no. 1
pp. 1 – 8

Abstract

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Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame. Here the authors identify a Duchenne-type mutation that gives a Becker-like phenotype due to skipping of exon 45.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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