PubMed 18596570
Referenced in: none
Automatically associated channels: Kv11.1 , Kv7.1 , Nav1.5
Title: Cardiac ion channel gene mutations in sudden infant death syndrome.
Authors: Tesshu Otagiri, Kazuki Kijima, Motoki Osawa, Kuniaki Ishii, Naomasa Makita, Ryoji Matoba, Kazuo Umetsu, Kiyoshi Hayasaka
Journal, date & volume: Pediatr. Res., 2008 Nov , 64, 482-7
PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18596570
Abstract
Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. All mutations were novel except for SCN5A-F532C, which was previously detected in an arrhythmic patient. Heterologous expression study revealed significant changes in channel properties of KCNH2-T895M, SCN5A-G1084S, and SCN5A-F1705S, but did not in KCNQ1-K598R and SCN5A-F532C. Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries.