Bmc Medical Genetics Identification of a Novel Kcnq1 Mutation Associated with Both Jervell and Lange-nielsen and Romano-ward Forms of Long Qt Syndrome in a Chinese Family
Bmc Medical Genetics Identification of a Novel Kcnq1 Mutation Associated with Both Jervell and Lange-nielsen and Romano-ward Forms of Long Qt Syndrome in a Chinese Family
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通讯作者：
Su Zhang;Yin Ke;Xiang;Ren;Pengyun Wang;Shirong Zhang;Lingling Cheng;Junguo Yang;Jing Yu Liu;Mugen Liu;Qing Wang
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作者：
Su Zhang;Yin Ke;Xiang;Ren;Pengyun Wang;Shirong Zhang;Lingling Cheng;Junguo Yang;Jing Yu Liu;Mugen Liu;Qing Wang
背景资料：长QT综合征（LQTS）是一种以心电图（ECG）上QT间期延长、室性心律失常和猝死为特征的心脏疾病。临床上，LQTS有两种遗传形式：常染色体显性LQTS或Romano-Ward综合征（RWS）与耳聋无关，常染色体隐性LQTS或Jervell和Lange-Nielsen综合征（JLNS）与耳聋相关。
Background: Long QT syndrome (LQTS) is a cardiac disorder characterized by prolonged QT intervals on electrocardiograms (ECG), ventricular arrhythmias, and sudden death. Clinically, two inherited forms of LQTS have been defined: autosomal dominant LQTS or Romano-Ward syndrome (RWS) not associated with deafness and autosomal recessive LQTS or Jervell and Lange-Nielsen syndrome (JLNS) associated with deafness.