An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene

作者：Matsusue Aya^*; Kashiwagi Masayuki; Hara Kenji; Waters Brian; Sugimura Tomoko; Kubo Shin ichi

来源：Legal Medicine, 2012, 14(6): 317-319.

DOI：10.1016/j.legalmed.2012.04.009

• SCN5A
• Polymorphism
• Sudden cardiac death
• Sudden unexpected nocturnal death syndrome
• Forensic autopsy

SCN5A (sodium channel, voltage-gated, type V. alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while sleeping. At autopsy, no traumatic injury, disease or drug intake was observed as a possible cause of death. We examined mutations in the SCN5A gene and identified a heterozygous mutation causing an R1193Q amino acid substitution. It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. It may be considered that the cause of death in this case was sudden cardiac death.

• 出版日期2012-11