The role of hereditary KCNQ1 mutations in water-related death

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• 作者：Iliana Tzimas ; Thomas Bajanowski…
• 关键词：Drowning ; Long QT syndrome ; KCNQ1 gene ; Mutation
• 刊名：International Journal of Legal Medicine
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：130
• 期：2
• 页码：361-363
• 全文大小：228 KB
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• 作者单位：Iliana Tzimas (1)
  Thomas Bajanowski (1)
  Micaela Poetsch (1)
  
  1. Institute of Legal Medicine, University Hospital Essen, Hufelandstr. 55, 45122, Essen, Germany
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Forensic Medicine
  Medical Law
  Medicine/Public Health, general
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1437-1596

文摘

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.