Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome
Copyright policy )Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome
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.
- Hokkaido Bunkyo University Japan
- Hokkaido University Japan
- Osaka University Japan
- Yamagata University Japan
- Osaka Gakuin University Japan
Male, ERG1 Potassium Channel, Myocardium, Infant, Newborn, Infant, Muscle Proteins, Ether-A-Go-Go Potassium Channels, Cell Line, Membrane Potentials, NAV1.5 Voltage-Gated Sodium Channel, Cohort Studies, Kinetics, Asian People, Japan, KCNQ1 Potassium Channel, Mutation, Animals, Humans, Female, Genetic Predisposition to Disease
Male, ERG1 Potassium Channel, Myocardium, Infant, Newborn, Infant, Muscle Proteins, Ether-A-Go-Go Potassium Channels, Cell Line, Membrane Potentials, NAV1.5 Voltage-Gated Sodium Channel, Cohort Studies, Kinetics, Asian People, Japan, KCNQ1 Potassium Channel, Mutation, Animals, Humans, Female, Genetic Predisposition to Disease
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