Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.
Cardiac Myosins
/ genetics
Cohort Studies
Female
Forensic Genetics
Gene Frequency
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Male
Mutation
Myosin Heavy Chains
/ genetics
NAV1.5 Voltage-Gated Sodium Channel
/ genetics
Potassium Channels, Inwardly Rectifying
/ genetics
Sequence Analysis, DNA
Sudden Infant Death
/ genetics
Genetic heart disease
Molecular autopsy
Next-generation sequencing
SIDS
Sudden infant death syndrome
Targeted sequencing
Journal
International journal of legal medicine
ISSN: 1437-1596
Titre abrégé: Int J Legal Med
Pays: Germany
ID NLM: 9101456
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
10
06
2020
accepted:
03
08
2020
pubmed:
14
8
2020
medline:
3
9
2021
entrez:
14
8
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32789579
doi: 10.1007/s00414-020-02394-x
pii: 10.1007/s00414-020-02394-x
pmc: PMC7782403
doi:
Substances chimiques
KCNJ2 protein, human
0
MYH7 protein, human
0
NAV1.5 Voltage-Gated Sodium Channel
0
Potassium Channels, Inwardly Rectifying
0
SCN5A protein, human
0
Cardiac Myosins
EC 3.6.1.-
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
207-212Références
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