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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Otagiri T,Kijima K,Osawa M,Ishii K,Makita N,Matoba R,Umetsu K,Hayasaka K

doi

10.1203/PDR.0b013e3181841eca

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

482-7

issue

5

eissn

0031-3998

issn

1530-0447

journal_volume

64

pub_type

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