ArticleArchives of disease in childhood2014
Long QT molecular autopsy in sudden infant death syndrome.
Article in Archives of disease in childhood, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Sudden death-associated KCNH2 variants exert opposing effects on a nuclear subdomain of the cardiac potassium channel hERG1.The Journal of biological chemistry · 2026Article
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Sudden Death-AssociatedbioRxiv : the preprint server for biology · 2025Article
- Identification of Mutations of theJournal of Korean medical science · 2025Article
- Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.Journal of pediatric genetics · 2022Article
- Article
- Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.Circulation · 2022Article
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- Single-centre retrospective analysis of the best timing for the QTc interval length assessment in neonates.BMJ paediatrics open · 2021Article
- The role of sodium channels in sudden unexpected death in pediatrics.Molecular genetics & genomic medicine · 2020Article
- Functional significance of channelopathy gene variants in unexplained death.Forensic science, medicine, and pathology · 2019Review
- Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion.Current cardiology reviews · 2019Review
- A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.Journal of pediatric genetics · 2018Review
- Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.The Journal of pediatrics · 2018Article
- Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.Forensic science, medicine, and pathology · 2018Article
- Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.Journal of Korean medical science · 2018Article
- Lack of modulatory effect of the SCN5A R1193Q polymorphism on cardiac fast Na+ current at body temperature.PloS one · 2018Article
- Article
- Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.Journal of biological research (Thessalonike, Greece) · 2017Review
- Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.BMC medical ethics · 2017Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe experience of long QT (LQT) molecular autopsy in sudden infant death syndrome (SIDS).
designDescriptive audit from two distinct periods: (1) A prospective, population-based series between 2006 and 2008 ('unselected'). (2) Before and after 2006-2008, with testing guided by a cardiac genetic service ('selected'). LQT genes 1, 2, 3, 5, 6 and 7 were sequenced. Next of kin were offered cardiac evaluation.
settingNew Zealand. PATIENTS: 102 SIDS cases.
interventionsNil. Main outcome measures Detection of genetic variants.
resultsMaori 49 (47%), and Pacific island 24 (23%), infants were over-represented. Risk factors were common; bed sharing was reported in 49%. Rare genetic variants were commoner within the selected than unselected populations (5 of 31 infants (16%) vs 3 of 71 infants (4%) p < 0.05). In the selected population two infants had variants of definite or probable pathogenicity (KCNQ1, E146K; KCNH2, R1047L), two had novel variants of possible pathogenicity in SCN5A (I795F, F1522Y) and one had R1193Q in SCN5A, of doubtful pathogenicity. R1193Q was also the only variant in the three cases from the unselected population and occurred as a second variant with R1047L. Engaging families proved challenging. Only 3 of 8 (38%) variant-positive cases and 18 of 94 (19%) of variant-negative families participated in cardiac/genetic screening.
conclusionsLQT molecular autopsy has a very low diagnostic yield among unselected SIDS cases where risk factors are common. Diagnostic yield can be higher with case selection. Engagement of the family prior to genetic testing is essential to counsel for the possible uncertainty of the results and to permit family genotype-phenotype cosegregation studies.
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