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Article

A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

Circulation. Cardiovascular genetics - 1 Apr 2010

Nof Eyal, Cordeiro Jonathan M, Pérez Guillermo J, Scornik Fabiana S, Calloe Kirstine, Love Barry, Burashnikov Elena, Caceres Gabriel, Gunsburg Moshe, Antzelevitch Charles

Abstract excerpt

BACKGROUND: Identification of infants at risk for sudden arrhythmic death remains one of the leading challenges of modern medicine. We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combined with a stop codon mutation inherited from the mother (both asymptomatic), led to 2 cases of sudden infant death. METHODS AND RESULTS: KCNQ1, KCNH2, SCN5A, KCNE1,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20181576
DOI: 10.1161/CIRCGENETICS.109.898569
PMCID: PMC2858238

Genes

KCNH2
KCNJ2
KCNQ1

Provenance

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