ArticleInternational journal of legal medicine2016
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
Article in International journal of legal medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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20 citing papers in PubMed, 27 citations in OpenAlex.
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.Genes & genomics · 2025Article
- Finding the Arrhythmic Needle in the Low-Risk Haystack: Heritability of Imaging Features of Arrhythmic Mitral Valve Prolapse.Circulation. Cardiovascular imaging · 2025Article
- Inheritance of Imaging Parameters of Arrhythmic Risk in Mitral Valve Prolapse: A Pedigree Study.Circulation. Cardiovascular imaging · 2025Article
- Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests.Journal of personalized medicine · 2024Review
- Structure, Function, and Regulation of the Junctophilin Family.Annual review of physiology · 2024Review
- TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- The role of junctophilin proteins in cellular function.Physiological reviews · 2022Review
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- Cardiomyopathy in Genetic Aortic Diseases.Frontiers in pediatrics · 2021Review
- Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.International journal of legal medicine · 2020Article
- Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.International journal of legal medicine · 2019Article
- Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.European journal of human genetics : EJHG · 2019Article
- Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.International journal of legal medicine · 2018Article
- Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.Sports medicine (Auckland, N.Z.) · 2017Article
- Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.Journal of human genetics · 2017Article
- Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.European journal of human genetics : EJHG · 2017Article
- Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Frontiers in cardiovascular medicine · 2017Article
- Article
- Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.Frontiers in cardiovascular medicine · 2016Review
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes causing disturbed ion channel functions (channelopathies) or minimal structural heart abnormalities (cardiomyopathies). The aim of this study was to perform whole-exome sequencing (WES) in five young SUD cases in order to identify potentially disease-causing mutations with a focus on 184 genes associated with cardiac diseases or sudden death. WES analysis enabled the identification of damaging-predicted cardiac sequence alterations in three out of five SUD cases. Two SUD victims carried disease-causing variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A). In a third case, WES identified variants in two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGFβ2). The genome of a fourth case carried several minor variants involved in arrhythmia pointing to a multigene influence that might have contributed to sudden death. Our results confirm that post-mortem genetic testing in SUD cases in addition to the conventional autopsy can help to identify familial cardiac diseases and can contribute to the identification of genetic risk factors for sudden death.
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