CARDIAC SODIUM-CHANNEL MUTATIONS IN PATIENTS WITH LONG QT SYNDROME, AN INHERITED CARDIAC-ARRHYTHMIA

被引:252
作者
WANG, Q
SHEN, JX
LI, ZZ
TIMOTHY, K
VINCENT, GM
PRIORI, SG
SCHWARTZ, PJ
KEATING, MT
机构
[1] UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84112
[2] UNIV UTAH,HLTH SCI CTR,DEPT HUMAN GENET,SALT LAKE CITY,UT 84112
[3] UNIV UTAH,HLTH SCI CTR,ECCLES PROGRAM HUMAN MOLEC BIOL & GENET,SALT LAKE CITY,UT 84112
[4] UNIV UTAH,HLTH SCI CTR,DIV CARDIOL,SALT LAKE CITY,UT 84112
[5] LATTER DAY ST HOSP,DEPT MED,SALT LAKE CITY,UT 84037
[6] UNIV PAVIA,DEPT CARDIOL,I-20122 PAVIA,ITALY
关键词
D O I
10.1093/hmg/4.9.1603
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Long QT syndrome (LQT) is an inherited cardiac disorder that causes syncope, seizures and sudden death from ventricular tachyarrhythmias. We used single-strand conformation polymorphism (SSCP) and DNA sequence analyses to identify mutations in the cardiac sodium channel gene, SCN5A, in affected members of four LQT families. These mutations include two identical intragenic deletions and two missense mutations. These data suggest that SCN5A mutations cause LQT. The location and character of these mutations suggest that this form of LQT results from a delay in cardiac sodium channel fast inactivation or altered voltage-dependence of inactivation.
引用
收藏
页码:1603 / 1607
页数:5
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