title: Cardiac ion channel gene mutations in sudden infant death syndrome.
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.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990-9585, Japan. otagiri@med.id.yamagata-u.ac.jp
authors.forename: Tesshu
authors.initials: T
authors.lastname: Otagiri
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kijima
authors.forename: Motoki
authors.initials: M
authors.lastname: Osawa
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Ishii
authors.forename: Naomasa
authors.initials: N
authors.lastname: Makita
authors.forename: Ryoji
authors.initials: R
authors.lastname: Matoba
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics; D002460:Cell Line; D015331:Cohort Studies; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D051657:KCNQ1 Potassium Channel / Q000235:genetics* / Q000378:metabolism; D007700:Kinetics; D008297:Male; D008564:Membrane Potentials; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism; D013398:Sudden Infant Death / Q000208:ethnology / Q000235:genetics*; D014162:Transfection; D014982:Xenopus laevis
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels