Novel scn5a p.V1429m variant segregation in a family with brugada syndrome

Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Valeria Borrelli, Luigi Giannelli, Gabriele Vicedomini, Andrea Ghiroldi, Luigi Anastasia, Emanuela T. Locati, Sara Benedetti, Chiara Di Resta, Giorgio Casari, Carlo Pappone

Research output: Contribution to journalArticlepeer-review


Brugada syndrome (BrS) is diagnosed by the presence of an elevated ST-segment and can result in sudden cardiac death. The most commonly found mutated gene is SCN5A, which some argue is the only gene that has been definitively confirmed to cause BrS, while the potential causative effect of other genes is still under debate. While the issue of BrS genetics is currently a hot topic, current knowledge is not able to result in molecular confirmation of over half of BrS cases. Therefore, it is difficult to develop research models with wide potential. Instead, the clinical genetics first need to be better understood. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.4285G>A (p.Val1429Met) in the SCN5A gene, and demonstrate its segregation with BrS, suggesting a pathogenic effect. These results provide the first disease association with this variant and are crucial clinical data to communicate to basic scientists, who could perform functional studies to better understand the molecular effects of this clinically-relevant variant in BrS.

Original languageEnglish
Article number5902
Pages (from-to)1-8
Number of pages8
JournalInternational Journal of Molecular Sciences
Issue number16
Publication statusPublished - Aug 2 2020


  • Arrhythmia
  • Brugada syndrome
  • Channelopathy
  • Family
  • Genetic testing
  • Human
  • Mutation
  • 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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