TY  - JOUR
A1  - Köffer, Jasmin
A1  - Scheiper-Welling, Stefanie
A1  - Verhoff, Marcel A.
A1  - Bajanowski, Thomas
A1  - Kauferstein, Silke
T1  - Post-mortem genetic investigation of cardiac disease–associated genes in sudden infant death syndrome (SIDS) cases
T2  - International journal of legal medicine
N2  - 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.
KW  - Sudden infant death syndrome
KW  - SIDS
KW  - Genetic heart disease
KW  - Next-generation sequencing
KW  - Targeted sequencing
KW  - Molecular autopsy
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/72058
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-720582
SN  - 1437-1596
N1  - Open Access funding provided by Projekt DEAL. We thank the Friedrich Flick Foundation for supporting this work.
VL  - 135
IS  - 1
SP  - 207
EP  - 212
PB  - Springer ; HeinOnline
CY  - Berlin ; Heidelberg ; Getzville, NY
ER  -