Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

ABSTRACT:

Background

Sudden unexplained death (SUD) refers to cases of sudden death where autopsy fails to identify any cardiac or extracardiac underlying cause. Guideline-directed standard genetic testing identifies a disease-causing mutation in less than one-third of cases of SUD. Conversely, whole exome sequencing (WES) may provide the key to solve most cases of SUD even after several years from the subject's death.

Methods

We report on a case of sudden unexpected death of a 37-year-old male, with inconclusive autopsy conducted 14 years ago. A recent reevaluation through WES was performed on DNA extracted from left ventricular samples. A multiple step process including several "in silico" tools was applied to identify potentially pathogenic variants. Data analysis was based on a 56

SUBMITTER: Modena M 

PROVIDER: S-EPMC7196487 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature