title: A novel KCNH2 mutation as a modifier for short QT interval.
abstract: 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.
authors.forename: Hideki
authors.initials: H
authors.lastname: Itoh
authors.forename: Tomoko
authors.initials: T
authors.lastname: Sakaguchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Ashihara
authors.forename: Wei-Guang
authors.initials: WG
authors.lastname: Ding
authors.forename: Iori
authors.initials: I
authors.lastname: Nagaoka
authors.forename: Yuko
authors.initials: Y
authors.lastname: Oka
authors.forename: Yuko
authors.initials: Y
authors.lastname: Nakazawa
authors.forename: Takenori
authors.initials: T
authors.lastname: Yao
authors.forename: Hikari
authors.initials: H
authors.lastname: Jo
authors.forename: Makoto
authors.initials: M
authors.lastname: Ito
authors.forename: Kazufumi
authors.initials: K
authors.lastname: Nakamura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohe
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsuura
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie
mesh_terms: 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
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human