Molecular autopsy in a cohort of infants died suddenly at rest

Publication date: Available online 31 July 2018Source: Forensic Science International: GeneticsAuthor(s): Oscar Campuzano, Pilar Beltramo, Anna Fernandez, Anna Iglesias, Laura García, Catarina Allegue, Georgia Sarquella-Brugada, Monica Coll, Alexandra Perez-Serra, Irene Mademont-Soler, Jesus Mates, Bernat del Olmo, Ángeles Rodríguez, Natalia Maciel, Marta Puigmulé, Ferran Pico, Sergi Cesar, Josep Brugada, Alejandro Cuesta, Carmen GutierrezABSTRACTSudden 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 20,45% of ca...
Source: Forensic Science International: Genetics - Category: Forensic Medicine Source Type: research