ArticleInternational journal of legal medicine2021
Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) 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 10 papers.
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Who cites it
10 citing papers in PubMed, 17 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
- Comparative analysis of microRNA expression in serum-derived extracellular vesicles from sudden infant death syndrome cases.Scientific reports · 2026Article
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- The vicious spiral in Sudden Infant Death Syndrome.Frontiers in pediatrics · 2025Review
- Investigating cardiac genetic background in sudden infant death syndrome (SIDS).International journal of legal medicine · 2024Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- Variant interpretation in molecular autopsy: a useful dilemma.International journal of legal medicine · 2022Article
- Sudden Infant Death Syndrome: Beyond Risk Factors.Life (Basel, Switzerland) · 2021Review
- Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.Frontiers in pediatrics · 2021Article
- Characterization of an N-terminal NaBMC medical genetics · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The sudden infant death syndrome (SIDS) is one of the leading causes of postneonatal infant death. It has been shown that there exists a complex relationship between SIDS and inherited cardiac disease. Next-generation sequencing and surveillance of cardiac channelopathy and cardiomyopathy genes represent an important tool for investigating the cause of death in SIDS cases. In the present study, targeted sequencing of 80 genes associated with genetic heart diseases in a cohort of 31 SIDS cases was performed. To determine the spectrum and prevalence of genetic heart disease associated mutations as a potential monogenic basis for SIDS, a stringent variant classification was applied and the percentage of rare (minor allele frequency ≤ 0.2%) and ultra-rare variants (minor allele frequency ≤ 0.005%) in these genes was assessed. With a minor allele frequency of ≤ 0.005%, about 20% of the SIDS cases exhibited a variant of uncertain significance (VUS), but in only 6% of these cases, gene variants proved to be "potentially informative." The present study shows the importance of careful variant interpretation. Applying stringent criteria misinterpretations are avoided, as the results of genetic analyses may have an important impact of the family members involved.
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