title: Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family.
abstract: Long-QT syndrome is a congenital cardiac disease resulting in ventricular arrhythmias and sudden death. Genetic mutations in two protein ion-channel genes, KCNQ1 and KCNH2. The mutations position in these genes provides additional information about the evaluation of the risk-stratification. In a Spanish family in whom previous repetitive syncope episodes, sudden death and pathological prolongation of the QT interval were documented, a novel heterozygous mutation in the KCNH2 gene (A1218>G) was identified. This mutation loading to amino acid substitution H420R in the S1 transmembrane domain of KCNH2. The new A1218>G mutation in the KCNH2 gene detected in this Spanish family causes arrhythmia manifestation in the carriers.
authors.forename: José J
authors.initials: JJ
authors.lastname: Zamorano-León
authors.forename: Sergio
authors.initials: S
authors.lastname: Alonso-Orgaz
authors.forename: Javier
authors.initials: J
authors.lastname: Moreno
authors.forename: Rafael
authors.initials: R
authors.lastname: Cinza
authors.forename: Maria J
authors.initials: MJ
authors.lastname: García-Torrent
authors.forename: Nicasio
authors.initials: N
authors.lastname: Pérez-Castellano
authors.forename: Julián
authors.initials: J
authors.lastname: Pérez-Villacastín
authors.forename: Carlos
authors.initials: C
authors.lastname: Macaya
authors.forename: Antonio J
authors.initials: AJ
authors.lastname: López-Farré
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000235:genetics; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006639:Histidine / Q000235:genetics; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D013030:Spain / Q000453:epidemiology
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D006639:Histidine; D001120:Arginine