Cardiac ion channel gene mutations in sudden infant death syndrome

Pediatr Res. 2008 Nov;64(5):482-7. doi: 10.1203/PDR.0b013e3181841eca.

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

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Asian Continental Ancestry Group / genetics
  • Cell Line
  • Cohort Studies
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Ether-A-Go-Go Potassium Channels / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant, Newborn
  • Japan
  • KCNQ1 Potassium Channel / genetics*
  • KCNQ1 Potassium Channel / metabolism
  • Kinetics
  • Male
  • Membrane Potentials
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism
  • Mutation*
  • Myocardium / metabolism*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism
  • Sudden Infant Death / ethnology
  • Sudden Infant Death / genetics*
  • Transfection
  • Xenopus laevis

Substances

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • Muscle Proteins
  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels