Key result
Postmortem next-generation sequencing identified 60 variants in cardiac disease-related genes among 18 cases of sudden unexpected death in young people.
Why the study?
Information on genetic variations associated with sudden unexpected death in the young is lacking, yet postmortem genetic analysis is important to guide genetic counselling and clinical follow-up for relatives.
Does postmortem next-generation sequencing identify pathogenic genetic variations in cases of sudden unexpected death in young people?
Observational (n=18)
Yes
Does postmortem next-generation sequencing identify pathogenic genetic variations in cases of sudden unexpected death in young people?
Postmortem next-generation sequencing in young sudden death victims identified multiple cardiac disease-related genetic variants, highlighting the utility of molecular autopsy for understanding pathogenicity and guiding family screening.
Postmortem genetic analysis in SUDY may guide family screening; leaves open variant prevalence and counseling utility in Japan.
Sudden unexpected death in the young (SUDY) is a traumatic occurrence for their family; however, information on the genetic variations associated with the condition is currently lacking. It is important to carry out postmortem genetic analyses in cases of sudden death to provide information for relatives and to allow appropriate genetic counselling and clinical follow-up. This study aimed to investigate the genetic variations associated with the occurrence of SUDY in Japan, using next-generation sequencing (NGS). The study included 18 cases of SUDY (16 males, 2 females; age 15-47 years) who underwent autopsy, including NGS DNA sequencing for molecular analysis. A total of 168 genes were selected from the sequencing panel and filtered, resulting in the identification of 60 variants in cardiac disease-related genes. Many of the cases had several of these genetic variants and some cases had a cardiac phenotype. The identification of genetic variants using NGS provides important information regarding the pathogenicity of sudden death.
No takes yet. Share an insight, caveat, or question.
Miura et al. (2024) conducted an observational in Sudden unexpected death in the young (SUDY) (n=18). Next-generation sequencing (NGS) was evaluated on Identification of genetic variants in cardiac disease-related genes. Postmortem next-generation sequencing identified 60 variants in cardiac disease-related genes among 18 cases of sudden unexpected death in young people.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: