title: The role of hereditary KCNQ1 mutations in water-related death.
abstract: Drowning remains one of the major causes of death in most developed countries despite the fact that many of the victims are known to be at least moderate swimmers as well as healthy directly before the event. Here, fatal arrhythmias and especially the long QT syndrome (LQTS) have been proposed as the underlying mechanism which may be connected to mutations in one of the associated genes. The KCNQ1 gene is involved in the occurrence of LQT1 which may be triggered by swimming. Therefore, 176 cases of drowning were screened for mutations in the exons 3, 5, 6, 7, and 8 of the KCNQ1 gene which have been shown to harbor major mutation clusters. No variation to the published sequence could be found in the exonic DNA in any of the cases clearly disproving an involvement of these mutation clusters in cases of drowning.
authors.affiliation: Institute of Legal Medicine, University Hospital Essen, Hufelandstr. 55, 45122, Essen, Germany.
authors.forename: Iliana
authors.initials: I
authors.lastname: Tzimas
authors.affiliation: Institute of Legal Medicine, University Hospital Essen, Hufelandstr. 55, 45122, Essen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Bajanowski
authors.affiliation: Institute of Legal Medicine, University Hospital Essen, Hufelandstr. 55, 45122, Essen, Germany. micaela.poetsch@uk-essen.de.
authors.forename: Micaela
authors.initials: M
authors.lastname: Poetsch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001145:Arrhythmias, Cardiac / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004332:Drowning / Q000401:mortality*; D005091:Exons; D005260:Female; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human
keywords: Drowning; KCNQ1 gene; Long QT syndrome; Mutation