三种常见先天性长QT综合征的基因突变特点及致病性评估流程  

Genetic Mutation Characteristics and Pathogenicity Assessment of Three Common Type Congenital Long QT Syndromes

作　　者：杨英[1] 张萍 吕婷婷[3] Yang Ying;Zhang Ping;LüTingting(Department of Cardiovascular Medicine,Yichang Central People's Hospital,The First College of Clinical Medical Science,China Three Gorges University&Institute of Cardiovascular Diseases,China Three Gorges University,Yichang,443003,China;School of Clinical Medicine,Tsinghua University,Beijing 100084,China;Department of Cardiology,Beijing Tsinghua Changgeng Hospital,Tsinghua University,Beijing 102218,China)

机构地区：[1]三峡大学第一临床医学院[宜昌市中心人民医院]心血管内科&三峡大学心血管疾病研究所,湖北宜昌443003 [2]清华大学医学院,北京100084 [3]清华大学附属北京清华长庚医院心内科,北京102218

出　　处：《巴楚医学》2023年第4期97-102,共6页Bachu Medical Journal

基　　金：湖北省自然科学基金项目(No:2023AFB104);宜昌市医疗卫生科研项目(No:A23-1-001)。

摘　　要：先天性长QT综合征(LQTS)是一类编码心脏离子通道的基因突变,以癫痫、尖端扭转型室速、晕厥和猝死为主要表现的一组常染色体遗传病。因其突变基因与临床表型的一致性较好,临床上常用基因型确定临床分型。随着基因检测技术的发展,LQTS的基因诊断也取得了一定进展,包括基因的突变特点、致病规律、致病风险预测、电生理功能验证筛选出的“假阳性”突变以及初见雏形的致病性评估流程。本文就三种常见LQTS,即LQT1-3在上述领域的研究进展进行综述。Congenital long QT syndrome(LQTS)is a class of gene mutations,which encode cardiac ion channels.It is a group of autosomal genetic disorders,mainly manifested with epilepsy,torsade de pointes(TdPs),syncope and sudden death.Because of the good consistency between the mutant gene and the clinical phenotype,the genotype is commonly used to determine the clinical types.With the development of gene detection technology,the genetic diagnosis of LQTS has also made certain progress,including the gene mutation characteristics,pathogenic rules,further risk prediction,electrophysiological function verification of the screening“false positive”mutations,and the embryonic pathogenic assessment process.This paper reviews the research progress of three common LQTS(LQT1-3)in the above fields.

关 键 词：长QT综合征 基因突变 “假阳性”突变 致病性评估 

分 类 号：R54[医药卫生—心血管疾病]