Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Int J Legal Med
2006 May 01;1203:129-37. doi: 10.1007/s00414-005-0019-0.
Show Gene links
Show Anatomy links
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.
Wedekind H
,
Bajanowski T
,
Friederich P
,
Breithardt G
,
Wülfing T
,
Siebrands C
,
Engeland B
,
Mönnig G
,
Haverkamp W
,
Brinkmann B
,
Schulze-Bahr E
.
???displayArticle.abstract???
Sudden infant death syndrome (SIDS) is a frequent cause of death among infants. The etiology of SIDS is unknown and several theories, including fatal ventricular arrhythmias, have been suggested. We performed an epidemiological and genetic investigation of SIDS victims to estimate the presence of inherited long QT syndrome (LQTS) as a contributor for SIDS. Forty-one consecutively collected and unrelated SIDS cases were characterized by clinical and epidemiological criteria. We performed a comprehensive gene mutation screening with single-strand conformation polymorphism analysis and sequencing techniques of the most relevant LQTS genes to assess mutation frequencies. In vitro characterization of identified mutants was subsequently performed by heterologous expression experiments in Chinese hamster ovary cells and in Xenopus laevis oocytes. A positive family history for LQTS was suspected by mild prolonged Q-T interval in family members in 2 of the 41 SIDS cases (5%). In neither case, a family history of sudden cardiac death was present nor a mutation could be identified after thorough investigation. In another SIDS case, a heterozygous missense mutation (H105L) was identified in the N-terminal region of the KCNQ1 (LQTS 1) gene. Despite absence of this mutation in the general population and a high conservational degree of the residue H105 during evolution, electrophysiological investigations failed to show a significant difference between wild-type and KCNQ1(H105L)/minK-mediated I(Ks) currents. Our data suggest that a molecular diagnosis of SIDS related to LQTS genes is rare and that, even when an ion channel mutation is identified, this should be regarded with caution unless a pathophysiological relationship between SIDS and the electrophysiological characterization of the mutated ion channel has been demonstrated.
Abbott,
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
1999, Pubmed,
Xenbase
Abbott,
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
1999,
Pubmed
,
Xenbase
Ackerman,
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
2001,
Pubmed
Akimoto,
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
1998,
Pubmed
Bajanowski,
Dioxin in infants--an environmental hazard?
2002,
Pubmed
Bajanowski,
Pathological changes of the heart in sudden infant death.
2003,
Pubmed
Chevalier,
Non-invasive testing of acquired long QT syndrome: evidence for multiple arrhythmogenic substrates.
2001,
Pubmed
Chou,
Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications.
1992,
Pubmed
Christiansen,
Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
2005,
Pubmed
Don,
'Touchdown' PCR to circumvent spurious priming during gene amplification.
1991,
Pubmed
Dwyer,
SIDS epidemiology and incidence.
1995,
Pubmed
Eskdale,
Microsatellite alleles and single nucleotide polymorphisms (SNP) combine to form four major haplotype families at the human interleukin-10 (IL-10) locus.
1999,
Pubmed
Findeisen,
German study on sudden infant death (GeSID): design, epidemiological and pathological profile.
2004,
Pubmed
Iwasa,
Multiple single-nucleotide polymorphisms (SNPs) in the Japanese population in six candidate genes for long QT syndrome.
2001,
Pubmed
James,
Sudden death in babies: new observations in the heart.
1968,
Pubmed
Kääb,
Susceptibility genes and modifiers for cardiac arrhythmias.
2005,
Pubmed
Kukolich,
Sudden infant death syndrome: normal QT interval on ECGs of relatives.
1977,
Pubmed
Lai,
Polymorphism of the gene encoding a human minimal potassium ion channel (minK).
1994,
Pubmed
Larsen,
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
1999,
Pubmed
Lee,
Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.
1997,
Pubmed
Loddenkötter,
Real-time quantitative PCR assay for the detection of Helicobacter pylori: no association with sudden infant death syndrome.
2005,
Pubmed
Maron,
Potential role of QT interval prolongation in sudden infant death syndrome.
1976,
Pubmed
Moss,
Delayed repolarization (QT or QTU prolongation) and malignant ventricular arrhythmias.
1982,
Pubmed
Narita,
Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population.
2001,
Pubmed
NULL,
Identification of infants destined to die unexpectedly during infancy: evaluation of predictive importance of prolonged apnoea and disorders of cardiac rhythm or conduction.
1983,
Pubmed
Paulussen,
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
2004,
Pubmed
Priori,
Brugada syndrome and sudden cardiac death in children.
2000,
Pubmed
ROMANO,
[RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)].
1963,
Pubmed
Schulze-Bahr,
Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response.
2004,
Pubmed
Schwartz,
Prolongation of the QT interval and the sudden infant death syndrome.
1998,
Pubmed
Schwartz,
Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link.
1976,
Pubmed
Schwartz,
The QT interval throughout the first 6 months of life: a prospective study.
1982,
Pubmed
Schwartz,
Molecular diagnosis in a child with sudden infant death syndrome.
2001,
Pubmed
Schwartz,
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
2000,
Pubmed
Sesti,
A common polymorphism associated with antibiotic-induced cardiac arrhythmia.
2000,
Pubmed
Southall,
QT interval measurements before sudden infant death syndrome.
1986,
Pubmed
Splawski,
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
1998,
Pubmed
Taylor,
Categories of preventable unexpected infant deaths.
1990,
Pubmed
Tesson,
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.
1996,
Pubmed
Walsh,
Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material.
1991,
Pubmed
Wang,
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel.
1996,
Pubmed
WARD,
A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.
1964,
Pubmed
Wedekind,
De novo mutation in the SCN5A gene associated with early onset of sudden infant death.
2001,
Pubmed
Willinger,
Defining the sudden infant death syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development.
1991,
Pubmed
Yang,
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
2002,
Pubmed
