A novel KCNH2 mutation as a modifier for short QT interval.
In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels. This mutation could modify clinical phenotypes for this patient.
Itoh
Hideki
H
Sakaguchi
Tomoko
T
Ashihara
Takashi
T
Ding
Wei-Guang
WG
Nagaoka
Iori
I
Oka
Yuko
Y
Nakazawa
Yuko
Y
Yao
Takenori
T
Jo
Hikari
H
Ito
Makoto
M
Nakamura
Kazufumi
K
Ohe
Tohru
T
Matsuura
Hiroshi
H
Horie
Minoru
M
D000328:Adult; D000818:Animals; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D016466:CHO Cells; D006224:Cricetinae; D003412:Cricetulus; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human