Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG.
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.
Hayashi
K
K
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan.
Shimizu
M
M
Ino
H
H
Okeie
K
K
Yamaguchi
M
M
Yasuda
T
T
Fujino
N
N
Fujii
H
H
Fujita
S
S
Mabuchi
H
H
D000328:Adult; D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; D004200:Diseases in Twins / Q000235:genetics*; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D017422:Sequence Analysis, DNA; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D014430:Twins, Monozygotic
D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG