Key result
Trio-based exome autopsy identifies pathogenic variants in ~21% of young sudden death cases.
Why the study?
Whole-exome molecular autopsy for sudden death in the young has mostly been performed on the decedent only, limiting understanding of inheritance patterns and variant interpretation.
Does SDY-parent trio-based whole-exome sequencing improve the identification and adjudication of pathogenic variants in sudden death in the young?
Observational (n=28)
Does SDY-parent trio-based whole-exome sequencing improve the identification and adjudication of pathogenic variants in sudden death in the young?
Trio-based whole-exome molecular autopsy in sudden death in the young identifies a high rate of de novo mutations, aiding in variant adjudication and potentially reducing the need for extensive clinical screening in first-degree relatives.
Parental WEMA trios may clarify inheritance of ultrarare variants in SDY; leaves open effects on diagnosis and family management.
No takes yet. Share an insight, caveat, or question.
Shanks et al. (2017) conducted an observational in Sudden death in the young (SDY) (n=28). Trio-based Whole-Exome Molecular Autopsy (WEMA) was evaluated on Pathogenic or likely pathogenic nonsynonymous variant in sudden death-susceptibility genes. Trio-based whole-exome molecular autopsy identified pathogenic or likely pathogenic variants in 21% of sudden death in the young cases, with 50% of these variants being de novo.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: