Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.
Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.
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DOI：
10.1253/circj.68.740
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发表时间：
2004-07
期刊：
影响因子：
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通讯作者：
Hideya Niimura;A. Matsunaga;K. Kumagai;K. Ohwaki;M. Ogawa;Hiroo Noguchi;K. Yonemura;K. Saku
中科院分区：
文献类型：
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作者：
Hideya Niimura;A. Matsunaga;K. Kumagai;K. Ohwaki;M. Ogawa;Hiroo Noguchi;K. Yonemura;K. Saku
背景 Brugada 综合征是一种特发性心室颤动，其特征为右束支传导阻滞模式和心电图右心前导联 ST 段抬高。 SCN5A 基因编码人类心脏钠通道的 α 亚基，在心脏兴奋性中起着至关重要的作用，SCN5A 的突变可能是布鲁格达综合征的基础。方法和结果 为了检测 SCN5A 突变，我们使用直接测序技术对 12 名日本 Brugada 综合征患者的 DNA 样本进行了分析。两名患者出现新突变 G292S 和 S835L，但在其余患者中未检测到其他 SCN5A 突变。第一个突变 G292S 位于 SCN5A 的 DIS5 和 DIS6 跨膜片段之间的孔衬区域附近，第二个突变 S835L 位于连接 DIIS4 和 DIIS5 的细胞内环中。在 100 名不相关的对照受试者中未检测到这两种突变。结论 在日本 Brugada 综合征患者中发现了两种新的 SCN5A 突变。
BACKGROUND Brugada syndrome is a form of idiopathic ventricular fibrillation characterized by right bundle-branch block pattern and ST elevation in the right precordial leads of the ECG. The SCN5A gene encodes the alpha-subunit of the human heart sodium channel, which plays a critical role in cardiac excitability, and mutations of SCN5A could underlie Brugada syndrome. METHODS AND RESULTS To detect mutations of SCN5A, DNA samples from 12 Japanese patients with Brugada syndrome were analyzed using direct sequencing. Two patients had novel mutations, G292S and S835L, but no other mutations of SCN5A were detected in the remaining patients. The first mutation, G292S, was identified adjacent to the pore-lining region between the DIS5 and DIS6 transmembrane segments of SCN5A, and the second mutation, S835L, was in the intracellular loop connecting the DIIS4 to DIIS5. Both mutations were not detected in 100 unrelated control subjects. CONCLUSION Two novel SCN5A mutations have been found in Japanese patients with Brugada syndrome.