ArticleInternational journal of legal medicine2013
Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.
Article in International journal of legal medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 30 citations in OpenAlex.
- Postmortem genetic testing in sudden death: clinical and medico-legal implications.International journal of legal medicine · 2026Article
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Identification of Mutations of theJournal of Korean medical science · 2025Article
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- A de novo ryanodine receptor 2 gene variant in a case of sudden cardiac death.International journal of legal medicine · 2020Article
- Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.International journal of legal medicine · 2020Article
- Calcium as a Key Player in Arrhythmogenic Cardiomyopathy: Adhesion Disorder or Intracellular Alteration?International journal of molecular sciences · 2019Review
- Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.European journal of human genetics : EJHG · 2016Article
- Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?International journal of legal medicine · 2016Review
- Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.Frontiers in cardiovascular medicine · 2016Review
- The investigation of sudden arrhythmic death syndrome (SADS)-the current approach to family screening and the future role of genomics and stem cell technology.Frontiers in physiology · 2013Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this investigation was to identify pathogenic variants of the ryanodine receptor 2 (RYR2) gene in a cohort of persons aged 0-40 years who died of sudden unexpected death syndrome (SUD), including a cohort of infants who died of sudden infant death syndrome (SIDS). We genetically screened 29 of the 105 exons of the RYR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 74 cases of SUD without reported structural abnormalities of the heart. Cases were selected from the case database at the Institute of Forensic Medicine, and subsequent mutational screening by DNA sequencing was performed to detect variants in DNA samples extracted from blood samples of deceased persons. A total of 7 of the examined 74 cases were heterozygous for a rare sequence variant in the RYR2 gene. We identified five novel missense variants (p.Q486H, p.D1872N, p.G2367R, p.E4213D, and p.H4579Y), one synonymous variant (p.L4767L), and one previously reported missense variant (p.G4315E). Follow-up studies were possible in family members of three probands (p.Q486H, p.D1872N, and p.H4579Y), and clinical examinations were conducted in family members of two of these probands (p.Q486H and p.H4579Y). In conclusion, we identified a higher prevalence of variants in the CPVT-associated gene RYR2 than in a previously reported cohort of SIDS (9.4% vs. 1-2%). Segregation studies show that one variant (p.H4579Y) co-segregates with CPVT and is presumed to be pathogenic.
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