SCN5A基因突变致先天性长QT综合征3型1家系报告  

SCN5A gene mutation causes congenital long QT syndrome type 3:A pedigree report

作　　者：俞蓓蓉 闫露露 邱海燕 YU Beirong;YAN Lulu;QIU Haiyan(Pediatrics Department,Women and Children’s Hospital of Ningbo University,Ningbo,Zhejiang 315012,China;The Central Laboratory of Birth Defects Prevention and Control,Women and Children’s Hospital of Ningbo University,Ningbo,Zhejiang 315012,China;Ningbo Key Laboratory of Genomic Medicine and Birth Defects Prevention,Ningbo,Zhejiang 315012,China)

机构地区：[1]宁波大学附属妇女儿童医院儿科,浙江宁波315012 [2]宁波大学附属妇女儿童医院出生缺陷防治中心,浙江宁波315012 [3]宁波市基因组医学与出生缺陷防治重点实验室,浙江宁波315012

出　　处：《中国优生与遗传杂志》2024年第10期2125-2128,共4页Chinese Journal of Birth Health & Heredity

基　　金：宁波市重点研发计划(2023Z178)。

摘　　要：目的探讨心脏钠离子通道α亚单位(SCN5A)基因突变导致先天性长QT综合征3型(LQTS3)患儿的临床表型和遗传特点,为其临床诊治提供参考。方法回顾1例宁波大学附属妇女儿童医院确诊的先天性LQTS3患儿的临床资料及基因检测结果。结果患儿女,4个月,因“体检发现心电图异常”就诊,体格检查无特殊,心电图示QT/QTc为322 ms/475 ms,Ⅰ度房室传导阻滞,完全性右束支传导阻滞,T波变化(Ⅱ、Ⅲ、AVF、V5)。行全外显子组测序,发现SCN5A基因存在新发突变c.1541del(p.G514Afs*7),既往未见报道,根据ACMG指南评估为致病性变异。结论SCN5A基因突变导致的先天性LQTS3可表现为晕厥、猝死等恶性心律失常的发作,也可无心脏事件的发生,心电图主要表现为QT间期延长,可结合全外显子组测序明确病因。Objective To explore clinical phenotype and genetic characteristics of congenital long QT syndrome 3(LQTS3)caused by cardiac Sodium voltage-gated channel alpha subunit 5(SCN5A)gene mutations,and provide reference for clinical diagnosis and treatment.Methods We analyzed a girl’s clinical data and gene mutation who diagnosed with congenital LQTS3 in Women and Children’s Hospital of Ningbo University.Results The 4 month-old girl came to the hospital because of abnormal electrocardiograph examination.Physical examination was normal,but electrocardiograph showed the value of QT/QTc was 322/475 ms,first degree AV block,complete right bundle branch block,and T-wave variation(Ⅱ,Ⅲ,AVF,V5).A novel mutation of SCN5A,c.1541del(p.G514Afs*7),was found by enhanced whole exome sequencing,which was assessed as pathogenic according to ACMG,and it is not reported yet.Conclusion Congenital LQTS3 caused by SCN5A gene mutations can be characterized by the onset of malignant arrhythmia such as syncope,sudden death,and it also can have no cardiac events happended.Electrocardiogram mainly shows prolonged QT interval.The etiology can be identified by whole exome sequencing.

关 键 词：先天性长QT综合征3型 儿童 SCN5A 基因测序 

分 类 号：R725.9[医药卫生—儿科]