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

被引：4

作者：

Kohli, Utkarsh ^{[1
,2
,3
]}

Sriram, Chenni S. ^{[4
]}

Nayak, Hemal M. ^{[5
]}

机构：

[1] Univ Chicago, Dept Pediat, Div Pediat Cardiol, Comer Childrens Hosp, Chicago, IL USA

[2] Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA

[3] West Virginia Sch Med, Dept Pediat, Div Pediat Cardiol Electrophysiol, Morgantown, WV USA

[4] Cent Michigan Univ, Childrens Hosp Michigan, Dept Pediat, Div Pediat Cardiol, Detroit, MI USA

[5] Univ Chicago, Pritzker Sch Med, Heart & Vasc Ctr, Ctr Arrhythmia Care, Chicago, IL 60637 USA

来源：

JOURNAL OF ELECTROCARDIOLOGY | 2021年 / 66卷

关键词：

Sinus node dysfunction; Atrial fibrillation; Brugada ECG pattern; SCN5A exon 20 deletion (c; 3667-?_c; 3840C+? del); LONG-QT SYNDROME; NA+ CHANNEL MUTATION; BRUGADA-SYNDROME; CONDUCTION DISEASE; SPECTRUM; VARIANTS; FEATURES; LQT3;

D O I：

10.1016/j.jelectrocard.2021.04.011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (c) 2021 Elsevier Inc. All rights reserved.

引用

页码：131 / 135

页数：5

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