Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Genome medicine - 13 Oct 2021
Shamseldin Hanan E, AlAbdi Lama, Maddirevula Sateesh, Alsaif Hessa S, Alzahrani Fatema, Ewida Nour, Hashem Mais, Abdulwahab Firdous, Abuyousef Omar, Kuwahara Hiroyuki, Gao Xin, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans. METHODS: We describe our experience with a cohort of 481 cases in whom the cause of premature...
Topics
- Adolescent
- Amidohydrolases
- Autopsy
- Bone Morphogenetic Protein Receptors, Type I
- Carrier Proteins
- Child
- Child, Preschool
- Cohort Studies
- DNA
- Death, Sudden