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

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

doi:10.1016/j.jelectrocard.2021.04.011

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 journal › Article › peer-review

5 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 language	English (US)
Pages (from-to)	131-135
Number of pages	5
Journal	Journal of Electrocardiology
Volume	66
DOIs	https://doi.org/10.1016/j.jelectrocard.2021.04.011
State	Published - May 1 2021
Externally published	Yes

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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10.1016/j.jelectrocard.2021.04.011

Cite this

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title = "A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype",

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.",

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

author = "Utkarsh Kohli and Sriram, {Chenni S.} and Nayak, {Hemal M.}",

note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",

year = "2021",

month = may,

day = "1",

doi = "10.1016/j.jelectrocard.2021.04.011",

language = "English (US)",

volume = "66",

pages = "131--135",

journal = "Journal of Electrocardiology",

issn = "0022-0736",

publisher = "Elsevier B.V.",

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TY - JOUR

T1 - A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype

AU - Kohli, Utkarsh

AU - Sriram, Chenni S.

AU - Nayak, Hemal M.

PY - 2021/5/1

Y1 - 2021/5/1

N2 - 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.

AB - 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.

KW - Atrial fibrillation

KW - Brugada ECG pattern

KW - SCN5A exon 20 deletion (c.3667-?_c.3840C +?del)

KW - Sinus node dysfunction

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DO - 10.1016/j.jelectrocard.2021.04.011

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AN - SCOPUS:85104931328

SN - 0022-0736

VL - 66

SP - 131

EP - 135

JO - Journal of Electrocardiology

JF - Journal of Electrocardiology

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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