SNPS1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family

被引:35
作者
Chen, S
Chung, MK
Martin, D
Rozich, R
Tchou, PJ
Wang, Q
机构
[1] Cleveland Clin Fdn, Ctr Mol Genet, Dept Mol Cardiol, Lerner Res Inst, Cleveland, OH 44195 USA
[2] Cleveland Clin Fdn, Dept Cardiovasc Med, Cleveland, OH 44195 USA
关键词
D O I
10.1136/jmg.39.12.913
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Cardiac arrhythmias cause 400,000 sudden deaths annually in the United States alone. Mutations in the cardiac sodium channel gene SCN5A on chromosome 3p21 cause cardiac arrhythmias and sudden death. In this study, we define an SCN5A mutation, S1103Y, in a white family associated with syncope, ventricular fibrillation, and sudden death. A very recent study reported the same mutation in 13.2% of African Americans, but not in the white population. Our study shows that mutation S1103Y does exist in the white population, and it is associated with a considerable risk of syncope, ventricular arrhythmia, ventricular fibrillation, and sudden death in this population.
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收藏
页码:913 / 915
页数:3
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