ArticleEuropean journal of human genetics : EJHG2016
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 66 citations in OpenAlex.
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Identification of Mutations of theJournal of Korean medical science · 2025Article
- Investigating cardiac genetic background in sudden infant death syndrome (SIDS).International journal of legal medicine · 2024Article
- Searching for genetic determinants for left ventricular non-compaction.Quantitative imaging in medicine and surgery · 2024Article
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- Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.The Journal of biological chemistry · 2023Article
- Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.JAMA network open · 2023Article
- Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.Frontiers in medicine · 2023Review
- Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.Pediatric research · 2022Article
- Genetic Determinants of Sudden Unexpected Death in Pediatrics.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- The Role ofGenes · 2022Article
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- Application of Nanotechnology for Sensitive Detection of Low-Abundance Single-Nucleotide Variations in Genomic DNA: A Review.Nanomaterials (Basel, Switzerland) · 2021Review
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.Frontiers in pediatrics · 2021Article
- Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.International journal of legal medicine · 2021Article
- Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.Cold Spring Harbor molecular case studies · 2020Article
- Application of magnetic nanoparticles in nucleic acid detection.Journal of nanobiotechnology · 2020Review
- Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.International journal of legal medicine · 2019Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sudden infant death syndrome (SIDS) is the most frequent manner of post-perinatal death among infants. One of the suggested causes of the syndrome is inherited cardiac diseases, mainly channelopathies, that can trigger arrhythmias and sudden death. The purpose of this study was to investigate cases of sudden unexpected death in infancy (SUDI) for potential causative variants in 100 cardiac-associated genes. We investigated 47 SUDI cases of which 38 had previously been screened for variants in RYR2, KCNQ1, KCNH2 and SCN5A. Using the Haloplex Target Enrichment System (Agilent) and next-generation sequencing (NGS), the coding regions of 100 genes associated with inherited channelopathies and cardiomyopathies were captured and sequenced on the Illumina MiSeq platform. Sixteen (34%) of the SUDI cases had variants with likely functional effects, based on conservation, computational prediction and allele frequency, in one or more of the genes screened. The possible effects of the variants were not verified with family or functional studies. Eight (17%) of the SUDI cases had variants in genes affecting ion channel functions. The remaining eight cases had variants in genes associated with cardiomyopathies. In total, one third of the SUDI victims in a forensic setting had variants with likely functional effect that presumably contributed to the cause of death. The results support the assumption that channelopathies are important causes of SUDI. Thus, analysis of genes associated with cardiac diseases in SUDI victims is important in the forensic setting and a valuable supplement to the clinical investigation in all cases of sudden death.
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