Molecular autopsy in a cohort of infants died suddenly at rest.
Sudden infant death syndrome is the leading cause of death during the first year of life. A large part of cases remains without a conclusive cause of death after complete autopsy. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Our aim was to ascertain whether genetic variants associated with sudden cardiac death might be the cause of death in a cohort of infants died suddenly. We analyzed 108 genes associated with sudden cardiac death in 44 post-mortem samples of infants less than 1 year old of age who died at rest. Definite cause of death was not conclusive in any case after a complete autopsy. Genetic analysis identified at least one rare variant in 90.90% of samples. A total of 121 rare genetic variants were identified. Of them, 33.05% were novel and 39.66% were located in genes encoding ion channels or associated proteins. A comprehensive genetic analysis in infants who died suddenly enables the unraveling of potentially causative cardiac variants in 2045% of cases. Molecular autopsy should be included in forensic protocols when no conclusive cause of death is identified. Large part genetic variants remain of uncertain significance, reinforcing the crucial role of genetic interpretation before clinical translation but also in early identification of relatives at risk.
['Campuzano|Oscar|O|', 'Beltramo|Pilar|P|', 'Fernandez|Anna|A|', 'Iglesias|Anna|A|', 'García|Laura|L|', 'Allegue|Catarina|C|', 'Sarquella-Brugada|Georgia|G|', 'Coll|Monica|M|', 'Perez-Serra|Alexandra|A|', 'Mademont-Soler|Irene|I|', 'Mates|Jesus|J|', 'Del Olmo|Bernat|B|', 'Rodríguez|Ángeles|Á|', 'Maciel|Natalia|N|', 'Puigmulé|Marta|M|', 'Pico|Ferran|F|', 'Cesar|Sergi|S|', 'Brugada|Josep|J|', 'Cuesta|Alejandro|A|', 'Gutierrez|Carmen|C|', 'Brugada|Ramon|R|']
D015331:Cohort Studies D056915:DNA Copy Number Variations D005260:Female D005787:Gene Frequency D014644:Genetic Variation D059014:High-Throughput Nucleotide Sequencing D006801:Humans D007223:Infant D007231:Infant, Newborn D008297:Male D016133:Polymerase Chain Reaction D017422:Sequence Analysis, DNA D013398:Sudden Infant Death
Molecular autopsy Sudden infant death Genetics