Hayashi K, Shimizu M, Ino H, Okeie K, Yamaguchi M, Yasuda T, Fujino N, Fujii H, Fujita S, Mabuchi H
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan.
Jpn Heart J. 2000 May;41(3):399-404. doi: 10.1536/jhj.41.399.
Familial long QT syndrome (LQTS) is caused by mutations in genes encoding ion channels important in determining ventricular repolarization. Mutations in at least five genes have been associated with the LQTS. Fire genes, KCNQ1, HERG, SCN5A, KCNE1, and KCNE2, have been identified. We have identified a missense mutation in the HERG gene in identical twins in a Japanese family with LQTS. The identical twins in our study had QT prolongation and the same missense mutation. However only the proband had a history of syncope. Although many mutations in LQT genes have been reported, there are few reports of twins with LQTS. This is the first report, to our knowledge, of identical twins with a HERG gene mutation.
家族性长QT综合征（LQTS）是由编码对确定心室复极化很重要的离子通道的基因突变引起的。至少五个基因的突变与LQTS有关。已确定了五个基因，即KCNQ1、HERG、SCN5A、KCNE1和KCNE2。我们在一个患有LQTS的日本家族的同卵双胞胎中发现了HERG基因的一个错义突变。我们研究中的同卵双胞胎有QT延长和相同的错义突变。然而，只有先证者有晕厥史。虽然已经报道了许多LQT基因的突变，但关于患有LQTS的双胞胎的报道很少。据我们所知，这是第一例关于具有HERG基因突变的同卵双胞胎的报道。
