An R1632C variant in the SCN5A gene causing Brugada syndrome

Mol Med Rep. 2016 Jun;13(6):4677-80. doi: 10.3892/mmr.2016.5100. Epub 2016 Apr 11.

Abstract

Brugada syndrome (BS) is an electrical disease, inherited in an autosomal dominant manner. BS is caused by mutations in up to 13 different genes. SCN5A is the gene most frequently mutated in BS, although this presents an incomplete penetrance. The present case study investigated the SCN5A gene in a family exhibiting BS. Direct sequencing of the SCN5A gene was performed to identify mutations and a familial investigation was performed. A novel variant was identified in the voltage‑sensing domain of the SCN5A protein. This familial investigation revealed one novel asymptomatic carrier in the family. Genetic investigations are useful to classify individuals who require more frequent clinical monitoring and to stratify the risk of developing the disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brugada Syndrome / genetics*
  • Brugada Syndrome / pathology
  • DNA Mutational Analysis
  • Electrocardiography
  • Exons
  • Humans
  • Male
  • Mutation, Missense*
  • Myocardium / pathology
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Point Mutation*

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human