Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

doi:10.1253/circj.CJ-25-0283

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Article

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

Circulation journal : official journal of the Japanese Circulation Society - 25 Dec 2025

Yamauchi Kohei, Kato Koichi, Ohno Seiko, Nakada Masayuki, Yamashita Soichiro, Morita Hiroshi, Takami Mitsuru, Fukuzawa Koji, Ishibashi Kohei, Kusano Kengo, Aiba Takeshi

Abstract excerpt

BACKGROUND: Loss-of-function SCN5A variants are primarily associated with Brugada syndrome (BrS), but can also present with overlapping phenotypes. We investigated Cys1384Phe of SCN5A, a novel missense variant associated with BrS, sick sinus syndrome (SSS), and dilated cardiomyopathy (DCM). METHODS AND RESULTS: This study included a large 4-generation Japanese family consisting of 15 individuals (1 proband and 14...

Topics

Humans
NAV1.5 Voltage-Gated Sodium Channel
Brugada Syndrome
Male
Sick Sinus Syndrome
Cardiomyopathy, Dilated
Female
HEK293 Cells
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Mutation, Missense

Pedigree

Phenotype

Loss of Function Mutation

Aged

Source

Open in PubMed

Identifiers

PMID: 41047353
DOI: 10.1253/circj.CJ-25-0283

Genes

SCN5A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-41047353-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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