鉴定出一种导致3型儿茶酚胺能多形性室性心动过速的新型变异体。
Identification of a novel variant causing type 3 catecholaminergic polymorphic ventricular tachycardia.
作者信息
Chen Yun, Shen Jie, Chen Long, Sun Ling
机构信息
Department of Cardiology, Children's Hospital of Soochow University, Suzhou, China.
Department of Echocardiography, Children's Hospital of Soochow University, Suzhou, China.
出版信息
Front Pediatr. 2025 May 16;13:1549827. doi: 10.3389/fped.2025.1549827. eCollection 2025.
BACKGROUND
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a leading cause of sudden cardiac death (SCD) in young patients, characterized by bidirectional or polymorphic ventricular tachycardia often induced by physical exertion or emotional stress.
RESULTS
We analyzed a 12-year-old girl with CPVT who suffered cardiac and respiratory arrest. Clinical data were derived from medical records. Whole-exome sequencing (WES) and Sanger sequencing identified two missense mutations in the trans-2,3-enoyl-CoA reductase-like () gene (NM_001010874.5: c.587G > A p.Arg196Gln and NM_001010874.5: c.868C > T p.Pro290Ser), potentially pathogenic and associated with type 3 CPVT (CPVT3). Functional studies suggested both mutations could lead to reduced protein expression. We also discovered a novel mutation (NM_001010874.5: c.868C > T p.Pro290Ser). This study further supports the role of as one cause of CPVT.
CONCLUSIONS
In this study, functional studies implicate these variants as the cause of CPVT in this patient.
背景
儿茶酚胺能多形性室性心动过速（CPVT）是年轻患者心源性猝死（SCD）的主要原因，其特征为常由体力活动或情绪应激诱发的双向或多形性室性心动过速。
结果
我们分析了一名患有CPVT且发生心脏和呼吸骤停的12岁女孩。临床数据来源于病历。全外显子组测序（WES）和桑格测序在反式-2,3-烯酰辅酶A还原酶样（）基因（NM_001010874.5：c.587G＞A p.Arg196Gln和NM_001010874.5：c.868C＞T p.Pro290Ser）中鉴定出两个错义突变，可能具有致病性且与3型CPVT（CPVT3）相关。功能研究表明这两个突变均可导致蛋白质表达降低。我们还发现了一个新的突变（NM_001010874.5：c.868C＞T p.Pro290Ser）。本研究进一步支持了作为CPVT病因之一的作用。
结论
在本研究中，功能研究表明这些变异是该患者CPVT的病因。
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