title: Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.
abstract: Congenital long QT syndrome (LQTS) is an important cause of sudden cardiac death in young people without any other structural disease. Mutations in the genes encoding the cardiac ion channels or associated proteins have been shown to result in ion channel dysfunction and thereby causing LQTS. We investigated a Japanese family with LQTS for four generations, with the female family members showing severe symptoms. We performed genetic tests for LQTS-related genes and identified a heterozygous KCNH2 mutation (p.K638del). In the family, the KCNH2 mutation had a very high multigenerational inheritance, and female genotype positives showed more severe phenotypes.
authors.affiliation: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Japan.
authors.forename: Mari
authors.initials: M
authors.lastname: Ichikawa
authors.forename: Seiko
authors.initials: S
authors.lastname: Ohno
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Fujii
authors.forename: Junichi
authors.initials: J
authors.lastname: Ozawa
authors.forename: Keiko
authors.initials: K
authors.lastname: Sonoda
authors.forename: Megumi
authors.initials: M
authors.lastname: Fukuyama
authors.forename: Koichi
authors.initials: K
authors.lastname: Kato
authors.forename: Hiromi
authors.initials: H
authors.lastname: Kimura
authors.forename: Hideki
authors.initials: H
authors.lastname: Itoh
authors.forename: Hideki
authors.initials: H
authors.lastname: Hayashi
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie
mesh_terms: D044466:Asian People / Q000235:genetics*; D001919:Bradycardia / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013575:Syncope / Q000209:etiology / Q000235:genetics / Q000503:physiopathology
chemical_list: D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human