Genotype/phenotype relationship in a consanguineal family with Brugada syndrome harboring the R1632C missense variant in the SCN5A gene

Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Sara Benedetti, Chiara Di Resta, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Marco Piccoli, Luigi Anastasia, Vincenzo Santinelli, Maurizio Ferrari, Carlo Pappone

Research output: Contribution to journalArticle

Abstract

Brugada syndrome (BrS) is a known cause of sudden cardiac death. The genetic basis of BrS is not well understood, and no one single gene is linked to even a majority of BrS cases. However, mutations in the gene SCN5A are the most common, although the high amount of phenotypic variability prevents a clear correlation between genotype and phenotype. Research techniques are limited, as most BrS cases still remain without a genetic diagnosis, thus impairing the implementation of experimental models representative of a general pathogenetic mechanism. In the present study, we report the largest family to-date with the segregation of the heterozygous variant NM_198056:c.4894C>T (p.Arg1632Cys) in the SCN5A gene. The genotype-phenotype relationship observed suggests a likely pathogenic effect of this variant. Functional studies to better understand the molecular effects of this variant are warranted.

Original languageEnglish
Article number666
JournalFrontiers in Physiology
Volume10
Issue numberMAY
DOIs
Publication statusPublished - Jan 1 2019

Keywords

  • Arrhythmia
  • Brugada syndrome
  • Cardiomyopathy
  • Genetic testing
  • SCN5A
  • Sodium channel
  • Sudden cardiac death
  • Variant

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)

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  • Cite this

    Monasky, M. M., Micaglio, E., Ciconte, G., Benedetti, S., Resta, C. D., Vicedomini, G., Borrelli, V., Ghiroldi, A., Piccoli, M., Anastasia, L., Santinelli, V., Ferrari, M., & Pappone, C. (2019). Genotype/phenotype relationship in a consanguineal family with Brugada syndrome harboring the R1632C missense variant in the SCN5A gene. Frontiers in Physiology, 10(MAY), [666]. https://doi.org/10.3389/fphys.2019.00666