一种与短QT综合征相关的新型变异。 - Suppr

Suppr

超能文献

A novel variant in associated with short QT syndrome.

作者信息

Schneider Kristin, Parrott Ashley, Spar David, Knilans Timothy, Czosek Richard, Miller Erin, Anderson Jeffrey

机构信息

The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

出版信息

HeartRhythm Case Rep. 2021 May 7;7(10):650-654. doi: 10.1016/j.hrcr.2021.04.017. eCollection 2021 Oct.

DOI:10.1016/j.hrcr.2021.04.017

PMID:34712558

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8530816/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6a6/8530816/fdf620dd5f3a/gr1.jpg

相似文献

A novel variant in associated with short QT syndrome.一种与短QT综合征相关的新型变异。

HeartRhythm Case Rep. 2021 May 7;7(10):650-654. doi: 10.1016/j.hrcr.2021.04.017. eCollection 2021 Oct.

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.导致子宫内房颤和短QT综合征的新发KCNQ1突变。

Cardiovasc Res. 2005 Dec 1;68(3):433-40. doi: 10.1016/j.cardiores.2005.06.023. Epub 2005 Aug 18.

Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.KCNH2基因突变导致的短QT综合征和心房颤动。

J Cardiovasc Electrophysiol. 2005 Apr;16(4):394-6. doi: 10.1046/j.1540-8167.2005.40621.x.

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.一个 KCNQ1 突变导致家族性心房颤动的高外显率。

J Cardiovasc Electrophysiol. 2013 May;24(5):562-9. doi: 10.1111/jce.12068. Epub 2013 Jan 25.

Congenital short QT syndrome.先天性短QT综合征

Indian Pacing Electrophysiol J. 2010 Feb 1;10(2):86-95.

Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia.韩国心搏骤停患者的基因突变可作为特发性室性心律失常的替代标志物。

J Korean Med Sci. 2013 Jul;28(7):1021-6. doi: 10.3346/jkms.2013.28.7.1021. Epub 2013 Jul 3.

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.导致短QT间期综合征的KCNQ1基因突变。

Circulation. 2004 May 25;109(20):2394-7. doi: 10.1161/01.CIR.0000130409.72142.FE.

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.有致命性心律失常和猝死家族史患者中的KCNQ1突变。

Clin Genet. 2003 Apr;63(4):273-82. doi: 10.1034/j.1399-0004.2003.00048.x.

[Familial short QT syndrome].[家族性短QT综合征]

Rev Prat. 2007 Jan 31;57(2):121-5.

KCNQ1 K+ channel-mediated cardiac channelopathies.KCNQ1钾离子通道介导的心脏离子通道病。

Methods Mol Biol. 2006;337:167-83. doi: 10.1385/1-59745-095-2:167.

引用本文的文献

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.短QT综合征的罕见现象：文献综述

J Pers Med. 2025 Mar 8;15(3):105. doi: 10.3390/jpm15030105.

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.解读与短 QT 综合征相关的罕见变异的可操作临床作用。

Hum Genet. 2024 Dec;143(12):1499-1508. doi: 10.1007/s00439-024-02713-x. Epub 2024 Nov 6.

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.短 QT 综合征中功能获得性钾通道突变的致心律失常作用。

Philos Trans R Soc Lond B Biol Sci. 2023 Jun 19;378(1879):20220165. doi: 10.1098/rstb.2022.0165. Epub 2023 May 1.

本文引用的文献

The UCSC Genome Browser database: 2019 update.UCSC 基因组浏览器数据库：2019 年更新。

Nucleic Acids Res. 2019 Jan 8;47(D1):D853-D858. doi: 10.1093/nar/gky1095.

Diagnosis and management of short QT syndrome.短 QT 综合征的诊断与治疗。

Heart Rhythm. 2018 Aug;15(8):1261-1267. doi: 10.1016/j.hrthm.2018.02.034. Epub 2018 Mar 2.

Electrophysiological mechanisms of long and short QT syndromes.长QT综合征和短QT综合征的电生理机制。

Int J Cardiol Heart Vasc. 2016 Nov 26;14:8-13. doi: 10.1016/j.ijcha.2016.11.006. eCollection 2017 Mar.

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.60000例外显子组与美国医学遗传学与基因组学学会（ACMG）指南的整合对儿茶酚胺能多形性室性心动过速相关变异的作用提出质疑。

Clin Genet. 2017 Jan;91(1):63-72. doi: 10.1111/cge.12847. Epub 2016 Sep 26.

Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。

Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.

A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.一个位于 S5 片段的新 KCNQ1 突变，可损害其与 KCNE1 的关联，是导致短 QT 综合征的原因。

Cardiovasc Res. 2015 Sep 1;107(4):613-23. doi: 10.1093/cvr/cvv196. Epub 2015 Jul 13.

Steric hindrance between S4 and S5 of the KCNQ1/KCNE1 channel hampers pore opening.KCNQ1/KCNE1 通道 S4 和 S5 之间的空间位阻阻碍了孔道的开放。

Nat Commun. 2014 Jun 12;5:4100. doi: 10.1038/ncomms5100.

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.274例不同种族不明原因猝死患者的心脏离子通道病检测

Forensic Sci Int. 2014 Apr;237:90-9. doi: 10.1016/j.forsciint.2014.01.014. Epub 2014 Feb 15.

HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.遗传性原发性心律失常综合征患者诊断与管理的HRS/EHRA/APHRS专家共识声明：2013年5月由HRS、EHRA和APHRS认可，2013年6月由ACCF、AHA、PACES和AEPC认可。

Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.对17个家庭进行的外显子组测序和全基因组连锁分析表明，TTN截短变异对扩张型心肌病的影响较为复杂。

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验