A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype

Utkarsh Kohli, Chenni S. Sriram, Hemal M. Nayak

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

The SCN5A gene, located on chromosome 3p21, has 28 exons and is a member of the human voltage-gated sodium channel gene family. Genetic variation in SCN5A is associated with a diverse range of phenotypes. Due to incomplete penetrance, delayed expression, inherent low signal-to-noise ratio, and marked phenotypic heterogeneity, rare novel variants in SCN5A could be misinterpreted. Hence, defining the phenotypic characteristics of these rare SCN5A variants in humans is of importance. We describe the phenotypic heterogeneity noted in 4 familial carriers of a rare, previously unreported, large deletion in exon 20 of SCN5A (c.3667-?_c.3840C +?del) and discuss the mechanisms that underlie this heterogeneity.

Original languageEnglish (US)
Pages (from-to)131-135
Number of pages5
JournalJournal of Electrocardiology
Volume66
DOIs
StatePublished - May 1 2021
Externally publishedYes

Keywords

  • Atrial fibrillation
  • Brugada ECG pattern
  • SCN5A exon 20 deletion (c.3667-?_c.3840C +?del)
  • Sinus node dysfunction

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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