ArticleCirculation. Cardiovascular genetics2010
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.
Article in Circulation. Cardiovascular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 54 citations in OpenAlex.
- Opioids-Induced Long QT Syndrome: A Challenge to Cardiac Health.Cardiovascular toxicology · 2024Review
- Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.PloS one · 2024Article
- The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome.Journal of cardiovascular translational research · 2023Review
- hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IThe Journal of biological chemistry · 2023Article
- The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.Frontiers in physiology · 2021Article
- Electrophysiological characterization of the modified hERGPhysiological reports · 2020Article
- Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.Molecular genetics & genomic medicine · 2020Article
- Modifier genes for sudden cardiac death.European heart journal · 2018Review
- Sudden infant death syndrome and inherited cardiac conditions.Nature reviews. Cardiology · 2017Review
- Allelic Complexity in Long QT Syndrome: A Family-Case Study.International journal of molecular sciences · 2017Article
- KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Journal of medical genetics · 2017Article
- Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.International journal of legal medicine · 2017Article
- Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.International journal of cardiology · 2016Article
- Article
- Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Frontiers in pediatrics · 2013Review
- Article
- Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.Heart rhythm · 2012Article
- Clinical and genetic determinants of torsade de pointes risk.Circulation · 2012Review
- Cardiac ion channelopathies and the sudden infant death syndrome.ISRN cardiology · 2012Article
- Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutation.Circulation. Cardiovascular genetics · 2011Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundIdentification 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
resultsKCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, CACNA1c, CACNB2b, and KCNJ2 genes were amplified and analyzed by direct sequencing. Functional electrophysiological studies were performed with the single nucleotide polymorphism and mutation expressed singly and in combination in Chinese ovary (CHO-K1) and COS-1 cells. An asymptomatic woman presenting after the death of her 2-day-old infant and spontaneous abortion of a second baby in the first trimester was referred for genetic analysis. The newborn infant had nearly incessant ventricular tachycardia while in utero and a prolonged QTc (560 ms). The mother was asymptomatic but displayed a prolonged QTc. Genetic screening of the mother revealed a heterozygous nonsense mutation (P926AfsX14) in KCNH2, predicting a stop codon. The father was asymptomatic with a normal QTc but had a heterozygous polymorphism (K897T) in KCNH2. The baby who died at 2 days of age and the aborted fetus inherited both K897T and P926AfsX14. Heterologous coexpression of K897T and P926AfsX14 led to loss of function of HERG current much greater than expression of K897T or P926AfsX14 alone.
conclusionsOur data suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death.
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