An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene.
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.
Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. miyoshi@fukuoka-u.ac.jp
Aya
A
Matsusue
Masayuki
M
Kashiwagi
Kenji
K
Hara
Brian
B
Waters
Tomoko
T
Sugimura
Shin-ichi
S
Kubo
D000328:Adult; D001344:Autopsy; D053840:Brugada Syndrome / Q000235:genetics*; D053803:Forensic Genetics / Q000379:methods*; D006801:Humans; D007564:Japan; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D011110:Polymorphism, Genetic
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human