Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
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DOI：
10.1093/eurheartj/ehab687
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发表时间：
2022-04-14
影响因子：
39.3
通讯作者：
Gollob, Michael H.
中科院分区：
文献类型：
--
作者：
Walsh, Roddy;Adler, Arnon;Amin, Ahmad S.;Abiusi, Emanuela;Care, Melanie;Bikker, Hennie;Amenta, Simona;Feilotter, Harriet;Nannenberg, Eline A.;Mazzarotto, Francesco;Trevisan, Valentina;Garcia, John;Hershberger, Ray E.;Perez, Marco, V;Sturm, Amy C.;Ware, James S.;Zareba, Wojciech;Novelli, Valeria;Wilde, Arthur A. M.;Gollob, Michael H.
关键词：
儿茶酚胺能多形性室性心动过速（CPVT）和短QT综合征（SQTS）是可引起猝死的遗传性致心律失常性疾病。据报道，许多基因导致这些疾病，但支持这些基因-疾病关系的证据差异很大。为了确保CPVT和SQTS患者的遗传信息的适当利用，我们对以前报道的基因进行了循证重新评估。三个团队使用ClinGen基因管理框架独立管理了11个CPVT和9个SQTS相关基因的所有已发表证据。结果由提供最终分类的生殖器疾病专家小组审查。7个基因具有明确至中度的CPVT致病证据，具有常染色体显性（RYR 2、CALM 1、CALM 2、CALM 3）或常染色体隐性（CASQ 2、TRDN、TECRL）遗传。专家小组认为，CPVT的四个有争议的基因中有三个（KCNJ 2，PKP 2，SCN 5A）被报告为不代表CPVT的表型，而第四个基因（ANK 2）中报告的变异在人群中太常见而不会引起疾病。对于SQTS，只有一个基因（KCNH 2）被归类为确定性的，其他三个（KCNQ 1，KCNJ 2，SLC 4A 3）具有强到中等的证据。SQTS基因的大部分遗传证据来自极少数变体（KCNJ 2中有5个，KCNH 2中有2个，KCNQ 1/SLC 4A 3中有1个）。七个CPVT和四个SQTS基因有有效的证据证明疾病的病因，应包括在基因检测小组。与可能模拟CPVT/SQTS临床特征的病症相关的其他基因具有鉴别诊断的潜在效用。
Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting these gene–disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes. Three teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation in CPVT, with either autosomal dominant (RYR2, CALM1, CALM2, CALM3) or autosomal recessive (CASQ2, TRDN, TECRL) inheritance. Three of the four disputed genes for CPVT (KCNJ2, PKP2, SCN5A) were deemed by the Expert Panel to be reported for phenotypes that were not representative of CPVT, while reported variants in a fourth gene (ANK2) were too common in the population to be disease-causing. For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence. The majority of genetic evidence for SQTS genes was derived from very few variants (five in KCNJ2, two in KCNH2, one in KCNQ1/SLC4A3). Seven CPVT and four SQTS genes have valid evidence for disease causation and should be included in genetic testing panels. Additional genes associated with conditions that may mimic clinical features of CPVT/SQTS have potential utility for differential diagnosis.
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影响因子：
37.8
作者：
Hosseini SM;Kim R;Udupa S;Costain G;Jobling R;Liston E;Jamal SM;Szybowska M;Morel CF;Bowdin S;Garcia J;Care M;Sturm AC;Novelli V;Ackerman MJ;Ware JS;Hershberger RE;Wilde AAM;Gollob MH;National Institutes of Health Clinical Genome Resource Consortium
通讯作者：
National Institutes of Health Clinical Genome Resource Consortium
DOI：
10.1073/pnas.0402546101
发表时间：
2004-06-15
影响因子：
11.1
作者：
Mohler, PJ;Splawski, I;Bennett, V
通讯作者：
Bennett, V
影响因子：
1.9
作者：
Villafane, Juan;Fischbach, Peter;Gebauer, Roman
通讯作者：
Gebauer, Roman
影响因子：
24
作者：
Mazzanti, Andrea;Kanthan, Ajita;Monteforte, Nicola;Memmi, Mirella;Bloise, Raffaella;Novelli, Valeria;Miceli, Carlotta;O'Rourke, Sean;Borio, Gianluca;Zienciuk-Krajka, Agnieszka;Curcio, Antonio;Surducan, Andreea Elena;Colombo, Mario;Napolitano, Carlo;Priori, Silvia G.
通讯作者：
Priori, Silvia G.
影响因子：
9.8
作者：
Strande, Natasha T.;Riggs, Erin Rooney;Berg, Jonathan S.
通讯作者：
Berg, Jonathan S.