ArticleInternational journal of legal medicine2019
Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.
Article in International journal of legal medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Are pre-analytical factors fully considered in forensic FFPE molecular analyses? A systematic review reveals the need for standardised procedures.International journal of legal medicine · 2025Pooled it
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Quantitative Histological Insights Into Sudden Arrhythmic Death Syndrome: Findings From a Forensic Autopsy Cohort.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026Article
- Retrospective analysis-based prioritization and degradation pattern characterization of sudden unexplained death susceptibility genes.International journal of legal medicine · 2026Article
- Multi-omics in cardiac arrest: a systematic review.Resuscitation plus · 2026Review
- Exploring transcriptomic signatures in sudden unexplained death (SUD) cases.International journal of legal medicine · 2025Article
- Cohort-based nomogram for forensic prediction of SCD: a single-center pilot study.Forensic science, medicine, and pathology · 2025Article
- Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.International journal of legal medicine · 2025Article
- RNA degradation patterns in cardiac tissues kept at different time intervals and temperatures before RNA sequencing.PloS one · 2025Article
- Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death.Clinical epigenetics · 2024Article
- Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.Heart failure reviews · 2024Review
- Undetected Neuromuscular Disease in Patients after Heart Transplantation.International journal of molecular sciences · 2024Article
- New Insights on Molecular Autopsy in Sudden Death: A Systematic Review.Diagnostics (Basel, Switzerland) · 2024Review
- Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests.Journal of personalized medicine · 2024Review
- Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024Review
- Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.International journal of legal medicine · 2023Article
- Review
- Comparison of whole transcriptome sequencing of fresh, frozen, and formalin-fixed, paraffin-embedded cardiac tissue.PloS one · 2023Article
- Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.American journal of medical genetics. Part A · 2022Article
- Two genetic variants inFrontiers in cardiovascular medicine · 2022Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSudden cardiac death (SCD) is a major public health problem and constitutes a diagnostic and preventive challenge in forensic pathology, especially for cases with structural normal hearts at autopsy, so-called sudden arrhythmic death syndrome (SADS). The identification of new genetic risk factors that predispose to SADS is important, because they may contribute to establish the diagnosis and increase the understanding of disease pathways underlying SADS. Pathogenic mutations in the protein coding regions of cardiac genes were found in relation to SADS. However, much remains unknown about variants in non-coding regions of the genome. METHODS AND
resultsIn this study, we explored the potential of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) to find DNA variants in SCD victims with structural normal hearts. With focus on the non-coding regulatory regions, we re-examined a cohort of 13 SADS and sudden unexplained death in infancy (SUDI) victims without disease causing DNA variants in recognized cardiac genes. The genetic re-examination of DNA was carried out using frozen tissue samples and WTS was carried out using five distinct formalin fixed and paraffin embedded (FFPE) cardiac tissue samples from each individual, including anterior and posterior walls of the left ventricle, ventricular papillary muscle, septum, and the right ventricle. We identified 23 candidate variants in regulatory sequences of cardiac genes, including a variant in the promotor region of NEXN, c.-194A>G, that was found to be statistically significantly (p < 0.05) associated with decreased expression of NEXN and cardiac hypertrophy.
conclusionWith the use of post-mortem FFPE tissues, we highlight the potential of using WTS investigations and compare gene expression levels with DNA variation in regulatory non-coding regions of the genome for a better understanding of the genetics of cardiac diseases leading to SCD.
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