Post-mortem genetic investigation of cardiac disease–associated genes in sudden infant death syndrome (SIDS) cases

  • 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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Author:Jasmin Köffer, Stefanie Scheiper-WellingORCiDGND, Marcel A. VerhoffORCiDGND, Thomas BajanowskiGND, Silke KaufersteinORCiDGND
Parent Title (English):International journal of legal medicine
Publisher:Springer ; HeinOnline
Place of publication:Berlin ; Heidelberg ; Getzville, NY
Document Type:Article
Date of Publication (online):2020/08/12
Date of first Publication:2020/08/12
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2023/03/21
Tag:Genetic heart disease; Molecular autopsy; Next-generation sequencing; SIDS; Sudden infant death syndrome; Targeted sequencing
Page Number:6
First Page:207
Last Page:212
Open Access funding provided by Projekt DEAL. We thank the Friedrich Flick Foundation for supporting this work.
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International