Channelpedia

PubMed 18596570


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , 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.