ArticleEuropean journal of human genetics : EJHG2017
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.
- A systematic review of the burden and risk factors of sudden infant death syndrome (SIDS) in Africa.Journal of global health · 2021Pooled it
- Current Practices in Postmortem Investigation of Sudden Unexpected Death in Infancy.Acta paediatrica (Oslo, Norway : 1992) · 2026Article
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Comparative analysis of microRNA expression in serum-derived extracellular vesicles from sudden infant death syndrome cases.Scientific reports · 2026Article
- Retrospective analysis-based prioritization and degradation pattern characterization of sudden unexplained death susceptibility genes.International journal of legal medicine · 2026Article
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Genetic evaluation of sudden unexpected death in infants and children.European journal of pediatrics · 2025Article
- Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?Forensic science, medicine, and pathology · 2025Article
- Observational
- A Narrative Overview of Fatal Myocarditis in Infant with Focus on Sudden Unexpected Death and Forensic Implications.Journal of clinical medicine · 2025Review
- Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.International journal of legal medicine · 2024Article
- Investigating cardiac genetic background in sudden infant death syndrome (SIDS).International journal of legal medicine · 2024Article
- Article
- Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.International journal of molecular sciences · 2024Review
- Review
- Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.The Journal of biological chemistry · 2023Article
- Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.International journal of molecular sciences · 2023Article
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.JAMA network open · 2023Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.
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