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
收藏
页码：131 / 135
页数：5
相关论文
共 50 条
  • [41] SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse
    Jaouadi, Hager
    Theron, Alexis
    Hourdain, Jerome
    Martel, Helene
    Nguyen, Karine
    Habachi, Raja
    Deharo, Jean-Claude
    Collart, Frederic
    Avierinos, Jean-Francois
    Zaffran, Stephane
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (22)
  • [42] Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death
    Neubauer, Jacqueline
    Wang, Zizun
    Rougier, Jean-Sebastien
    Abriel, Hugues
    Rieubland, Claudine
    Bartholdi, Deborah
    Haas, Cordula
    Medeiros-Domingo, Argelia
    INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2019, 133 (06) : 1733 - 1742
  • [43] A heterozygous missense SCN5A mutation associated with early repolarization syndrome
    Li, Ning
    Wang, Rongrong
    Hou, Cuihong
    Zhang, Yinhui
    Teng, Siyong
    Pu, Jielin
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2013, 32 (03) : 661 - 667
  • [44] Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation
    Darbar, Dawood
    Kannankeril, Prince J.
    Donahue, Brian S.
    Kucera, Gayle
    Stubblefield, Tanya
    Haines, Jonathan L.
    George, Alfred L., Jr.
    Roden, Dan M.
    CIRCULATION, 2008, 117 (15) : 1927 - 1935
  • [45] Novel Brugada SCN5A mutation causing sudden death in children
    Todd, SI
    Campbett, J
    Roden, DM
    Kannankeril, PJ
    HEART RHYTHM, 2005, 2 (05) : 540 - 543
  • [46] Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death
    Jacqueline Neubauer
    Zizun Wang
    Jean-Sébastien Rougier
    Hugues Abriel
    Claudine Rieubland
    Deborah Bartholdi
    Cordula Haas
    Argelia Medeiros-Domingo
    International Journal of Legal Medicine, 2019, 133 : 1733 - 1742
  • [47] A homozygous SCN5A mutation associated with atrial standstill and sudden death
    Tan, Reina Bianca
    Gando, Ivan
    Bu, Lei
    Cecchin, Frank
    Coetzee, William
    PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2018, 41 (08): : 1036 - 1042
  • [48] Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation
    Park, Ji Kwon
    Martin, Lisa J.
    Zhang, Xue
    Jegga, Anil G.
    Benson, D. Woodrow
    HEART RHYTHM, 2012, 9 (07) : 1090 - 1096
  • [49] Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy
    Beckermann, Thomas M.
    McLeod, Karen
    Murday, Victoria
    Potet, Franck
    George, Alfred L., Jr.
    HEART RHYTHM, 2014, 11 (08) : 1446 - 1453
  • [50] Novel mutations in domain I of SCN5A cause Brugada syndrome
    Vatta, M
    Dumaine, R
    Antzelevitch, C
    Brugada, R
    Li, H
    Bowles, NE
    Nademanee, K
    Brugada, J
    Brugada, P
    Towbin, JA
    MOLECULAR GENETICS AND METABOLISM, 2002, 75 (04) : 317 - 324
12345