Genotype–phenotype correlation in a family with brugada syndrome harboring the novel p.Gln371* Nonsense variant in the scn5a gene

Michelle M. Monasky, Emanuele Micaglio, Daniela Giachino, Giuseppe Ciconte, Luigi Giannelli, Emanuela T. Locati, Elisa Ramondini, Roberta Cotugno, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Carlo Pappone

Research output: Contribution to journalArticle

Abstract

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the SCN5A gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.

Original languageEnglish
Article number5522
JournalInternational Journal of Molecular Sciences
Volume20
Issue number22
DOIs
Publication statusPublished - Nov 2019

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Keywords

  • Arrhythmia
  • Brugada syndrome
  • Channelopathy
  • Family
  • Genetic testing
  • Humans
  • Mutation
  • Nonsense mutation
  • Premature stop codon
  • SCN5A
  • Sodium channel
  • Sudden cardiac death
  • Variant

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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