ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 43 citations in OpenAlex.
- Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment.European journal of human genetics : EJHG · 2026Article
- A narrative review of sudden infant death syndrome: pathophysiology, risk factors, and prevention.European journal of pediatrics · 2026Review
- Article
- Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.Journal of cardiovascular translational research · 2026Article
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.medRxiv : the preprint server for health sciences · 2025Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- Genetic evaluation of sudden unexpected death in infants and children.European journal of pediatrics · 2025Article
- Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy.Developmental medicine and child neurology · 2025Review
- The vicious spiral in Sudden Infant Death Syndrome.Frontiers in pediatrics · 2025Review
- Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.International journal of legal medicine · 2025Article
- Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.American journal of medical genetics. Part A · 2024Article
- Fentanyl and Sudden Death-A Postmortem Perspective for Diagnosing and Predicting Risk.Diagnostics (Basel, Switzerland) · 2024Review
- Brainstem depolarization-induced lethal apnea associated with gain-of-functionProceedings of the National Academy of Sciences of the United States of America · 2024Article
- The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.Genome medicine · 2024Article
- Sudden Unexplained Death in Childhood: Current Understanding.Pediatric emergency care · 2023Article
- Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.European journal of human genetics : EJHG · 2023Article
- Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.Brain : a journal of neurology · 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
- Implications of Genomic Newborn Screening for Infant Mortality.International journal of neonatal screening · 2023Article
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13 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThis study aimed to evaluate genetic contributions to sudden unexpected death in pediatrics (SUDP).
methodsWe phenotyped and performed exome sequencing for 352 SUDP cases. We analyzed variants in 294 "SUDP genes" with mechanisms plausibly related to sudden death. In a subset of 73 cases with parental data (trios), we performed exome-wide analyses and conducted cohort-wide burden analyses.
resultsIn total, we identified likely contributory variants in 37 of 352 probands (11%). Analysis of SUDP genes identified pathogenic/likely pathogenic variants in 12 of 352 cases (SCN1A, DEPDC5 [2], GABRG2, SCN5A [2], TTN [2], MYBPC3, PLN, TNNI3, and PDHA1) and variants of unknown significance-favor-pathogenic in 17 of 352 cases. Exome-wide analyses of the 73 cases with family data additionally identified 4 de novo pathogenic/likely pathogenic variants (SCN1A [2], ANKRD1, and BRPF1) and 4 de novo variants of unknown significance-favor-pathogenic. Comparing cases with controls, we demonstrated an excess burden of rare damaging SUDP gene variants (odds ratio, 2.94; 95% confidence interval, 2.37-4.21) and of exome-wide de novo variants in the subset of 73 with trio data (odds ratio, 3.13; 95% confidence interval, 1.91-5.16).
conclusionWe provide strong evidence for a role of genetic factors in SUDP, involving both candidate genes and novel genes for SUDP and expanding phenotypes of disease genes not previously associated with sudden death.
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