Ontology highlight
ABSTRACT:
SUBMITTER: Itoh H
PROVIDER: S-EPMC4970673 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Itoh Hideki H Berthet Myriam M Fressart Véronique V Denjoy Isabelle I Maugenre Svetlana S Klug Didier D Mizusawa Yuka Y Makiyama Takeru T Hofman Nynke N Stallmeyer Birgit B Zumhagen Sven S Shimizu Wataru W Wilde Arthur A M AA Schulze-Bahr Eric E Horie Minoru M Tezenas du Montcel Sophie S Guicheney Pascale P
European journal of human genetics : EJHG 20151216 8
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 (2748 carriers). We determined grandparental and parental origins of variant alleles ...[more]