Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.

ABSTRACT: Sudden unexplained death (SUD) can affect apparently healthy adolescents and young adults with no prior clinical symptoms and no clear diagnostic findings at autopsy. Although primary cardiac arrhythmias have been shown to be the direct cause of death in the majority of SUD cases, the genetic predisposition contributing to SUD remains incompletely understood. Currently, molecular autopsy is considered to be an effective diagnostic tool in the multidisciplinary management of SUD, but the analysis focuses mainly on the coding region and the significance of many identified variants remains unclear. Recent studies have demonstrated the strong association between human disease and genetic variants in untranslated regions (UTRs), highlighting the potential role of UTR variants in the genetic pre

SUBMITTER: Wang S 

PROVIDER: S-EPMC11732962 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature