ArticleInternational journal of legal medicine2021
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
Article in International journal of legal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 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
- Retrospective analysis-based prioritization and degradation pattern characterization of sudden unexplained death susceptibility genes.International journal of legal medicine · 2026Article
- Exploring transcriptomic signatures in sudden unexplained death (SUD) cases.International journal of legal medicine · 2025Article
- SERPINA1 is a new frontier in cancer immunotherapy and drug targeting by pan-cancer analysis.Discover oncology · 2025Article
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.International journal of legal medicine · 2025Article
- Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death.Clinical epigenetics · 2024Article
- Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.International journal of legal medicine · 2024Article
- New Insights on Molecular Autopsy in Sudden Death: A Systematic Review.Diagnostics (Basel, Switzerland) · 2024Review
- Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.International journal of legal medicine · 2023Article
- Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.International journal of legal medicine · 2023Article
- Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema.International journal of legal medicine · 2022Article
- Pharmacological Modulation and (Patho)Physiological Roles of TRPM4 Channel-Part 2: TRPM4 in Health and Disease.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Revisiting Secondary Information Related to Pharmacogenetic Testing.Frontiers in genetics · 2021Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Sudden unexplained death (SUD) takes up a considerable part in overall sudden death cases, especially in adolescents and young adults. During the past decade, many channelopathy- and cardiomyopathy-associated single nucleotide variants (SNVs) have been identified in SUD studies by means of postmortem molecular autopsy, yet the number of cases that remain inconclusive is still high. Recent studies had suggested that structural variants (SVs) might play an important role in SUD, but there is no consensus on the impact of SVs on inherited cardiac diseases. In this study, we searched for potentially pathogenic SVs in 244 genes associated with cardiac diseases. Whole-exome sequencing and appropriate data analysis were performed in 45 SUD cases. Re-analysis of the exome data according to the current ACMG guidelines identified 14 pathogenic or likely pathogenic variants in 10 (22.2%) out of the 45 SUD cases, whereof 2 (4.4%) individuals had variants with likely functional effects in the channelopathy-associated genes SCN5A and TRDN and 1 (2.2%) individual in the cardiomyopathy-associated gene DTNA. In addition, 18 structural variants (SVs) were identified in 15 out of the 45 individuals. Two SVs with likely functional impairment were found in the coding regions of PDSS2 and TRPM4 in 2 SUD cases (4.4%). Both were identified as heterozygous deletions, which were confirmed by multiplex ligation-dependent probe amplification. In conclusion, our findings support that SVs could contribute to the pathology of the sudden death event in some of the cases and therefore should be investigated on a routine basis in suspected SUD cases.
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