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.
Publication types
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Asian People / genetics
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Cell Line
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Cohort Studies
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels / genetics*
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Ether-A-Go-Go Potassium Channels / metabolism
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Female
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Genetic Predisposition to Disease
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Humans
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Infant
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Infant, Newborn
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Japan
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KCNQ1 Potassium Channel / genetics*
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KCNQ1 Potassium Channel / metabolism
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Kinetics
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Male
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Membrane Potentials
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Muscle Proteins / genetics*
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Muscle Proteins / metabolism
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Mutation*
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Myocardium / metabolism*
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NAV1.5 Voltage-Gated Sodium Channel
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Sodium Channels / genetics*
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Sodium Channels / metabolism
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Sudden Infant Death / ethnology
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Sudden Infant Death / genetics*
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Transfection
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Xenopus laevis
Substances
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels
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KCNH2 protein, human
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KCNQ1 Potassium Channel
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KCNQ1 protein, human
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Muscle Proteins
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NAV1.5 Voltage-Gated Sodium Channel
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SCN5A protein, human
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Sodium Channels