ArticleInternational journal of legal medicine2009
Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model.
Article in International journal of legal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Challenges and future directions of SUDEP models.Lab animal · 2024Review
- Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024Review
- Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.Molecular genetics and genomics : MGG · 2018Article
- A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant-negative mutation of the KCNE1 gene.British journal of pharmacology · 2016Article
- Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.International journal of legal medicine · 2015Article
- Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.The Journal of general physiology · 2010Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases. Single-strand conformation polymorphism and subsequent DNA sequencing analyses revealed that in one case, there was a variant, V207M of KCNQ1, a gene encoding a cardiac potassium channel. This case, a 40-year-old African male, was shown to have a heterozygous missense mutation (V207M), which has been previously reported to be ethnic-specific. The heterozygous V207M mutation was found in one case (0.23%) of 444 alleles from African individuals. We developed a knock-in mouse model carrier of the Kcnq1-V206M mutation, the mouse equivalent to the KCNQ1-V207M mutation identified in the victim. Significant prolongation of QT intervals was observed in the Kcnq1(V206M/V206M) mice. These findings suggest that the KCNQ1-V207M mutation might be pathogenic and might have been associated with the cause of death in the present case.
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