Article
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
European journal of human genetics : EJHG - 1 Aug 2016
Itoh Hideki, Berthet Myriam, Fressart Véronique, Denjoy Isabelle, Maugenre Svetlana, Klug Didier, Mizusawa Yuka, Makiyama Takeru, Hofman Nynke, Stallmeyer Birgit, Zumhagen Sven, Shimizu Wataru, Wilde Arthur A M, Schulze-Bahr Eric, Horie Minoru, Tezenas du Montcel Sophie, Guicheney Pascale
Abstract excerpt
Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A) or severity of channel dysfunction. We studied 3782 genotyped members from 679 European and Japanese LQTS families...
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