Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

Rodrigo Cabrera Perez, Arbey Hernán Medina Rocha, Joseph Alape, Clara Isabel Bermudez-Santana

Research output: Contribution to journalArticlepeer-review

Abstract

In most cases, sudden unexplained death (SUD) is caused by hereditary cardiac arrhythmias that standard forensic autopsy procedures cannot prove. For this reason, forensics analysis must apply other methodologies to uncover related factors. For example, postmortem molecular analysis (molecular autopsy) based on next-generation sequencing represents a promising and effective tool for diagnosing SUD. This analysis allows scientists to detect well-known, new, and rare pathogenic exonic variants or those with unknown significance that could be related to the cause of sudden death. Using exome sequencing, we identified rare exon variants in MYBPC3, KCND3, TTN, and ANK3 in a fifteen-year-old male SUD case with negative toxicology analysis and autopsy showing microscopic abnormality of heart fiber disarray. Our findings suggested that this case might be associated with cardiac channelopathy long QT syndrome, type 2, as a potential causative factor.
Translated title of the contributionSecuenciación de próxima generación de marcadores moleculares postmortem para respaldar la autopsia medicolegal
Original languageEnglish (US)
Article number100300
Pages (from-to)1-8
Number of pages8
JournalForensic Science International: Reports
Volume6
DOIs
StatePublished - Nov 14 2022

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

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