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.
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Abbreviations
- LQTS:
-
long QT syndrome
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Acknowledgements
We thank Prof. Atsunori Shinagawa (Department of Biology, Faculty of Science, Yamagata University), for advice on handling Xenopus laevis and its oocytes.
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Supported in part by grants from the Ministry of Education, Culture, Sports, and Science, Japan.
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Otagiri, T., Kijima, K., Osawa, M. et al. Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome. Pediatr Res 64, 482–487 (2008). https://doi.org/10.1203/PDR.0b013e3181841eca
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DOI: https://doi.org/10.1203/PDR.0b013e3181841eca
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