SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

In this case series, we report for the first time a family in which the inherited nonsense mutation [c. 3946C > T (p.Arg1316*)] in the SCN5A gene segregates in association with Brugada syndrome (BrS). Moreover, we also report, for the first time, the frameshift mutation [c.7686delG (p.Ile2563fsX4...

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Principais autores:	Emanuele Micaglio, Michelle M. Monasky, Giuseppe Ciconte, Gabriele Vicedomini, Manuel Conti, Valerio Mecarocci, Luigi Giannelli, Federica Giordano, Alberto Pollina, Massimo Saviano, Simonetta Crisà, Valeria Borrelli, Andrea Ghiroldi, Sara D’Imperio, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Vincenzo Santinelli, Luigi Anastasia, Carlo Pappone
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2019-02-01
Colecção:	Frontiers in Genetics
Assuntos:	Brugada syndrome neurofibromatosis type 1 sudden cardiac death genetic testing mutation arrhythmia
Acesso em linha:	https://www.frontiersin.org/article/10.3389/fgene.2019.00050/full
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