Levy-Nissenbaum E, Eldar M, Wang Q, Lahat H, Belhassen B, Ries L, Friedman E, Pras E
Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 52621, Israel.
Genet Test. 2001 Winter;5(4):331-4. doi: 10.1089/109065701753617480.
Idiopathic ventricular fibrillation in patients with an electrocardiogram (ECG) pattern of right bundle branch block and ST-segment elevation in leads V1 to V3 (now frequently called Brugada syndrome) is associated with a high incidence of syncopal episodes or sudden death. The disease is inherited as an autosomal dominant trait. Mutations in SCN5A, a cardiac sodium channel gene, have been recently associated with Brugada syndrome. We have analyzed 7 patients from Israel affected with Brugada syndrome. The families of these patients are characterized by a small number of symptomatic members. Sequencing analysis of SCN5A revealed two novel mutations, G35S and R104Q, in two Brugada patients, and a possible R34C polymorphism in two unrelated controls. No mutations were detected in 5 other patients, suggesting genetic heterogeneity. Low penetrance is probably the cause for the small number of symptomatic members in the two families positive for the SCN5A mutations.
心电图显示右束支传导阻滞及V1至V3导联ST段抬高（现常称为Brugada综合征）的特发性室颤患者，晕厥发作或猝死发生率很高。该疾病以常染色体显性特征遗传。心脏钠通道基因SCN5A的突变最近被认为与Brugada综合征有关。我们分析了7名来自以色列的Brugada综合征患者。这些患者的家族中症状性成员较少。对SCN5A的测序分析在两名Brugada患者中发现了两个新的突变，即G35S和R104Q，在两名无关对照中发现了一个可能的R34C多态性。其他5名患者未检测到突变，提示存在遗传异质性。SCN5A突变阳性的两个家族中症状性成员较少，可能是由于基因外显率低。
