Abstract：
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.
摘要：
年轻人的突然意外死亡（SUDY）对他们的家人来说是一种创伤；然而，目前缺乏与这种疾病相关的遗传变异信息。在猝死的情况下，必须进行死后遗传分析，为亲属提供信息，并允许适当的遗传咨询和临床随访。本研究旨在调查与日本SUDY发生相关的遗传变异，使用下一代测序（NGS）。该研究包括18例SUDY（男性16例，2名女性；年龄15-47岁）接受尸检，包括用于分子分析的NGSDNA测序。从测序面板中总共选择了168个基因，并进行了过滤，在心脏疾病相关基因中鉴定出60种变异。许多病例具有这些遗传变异中的几种，一些病例具有心脏表型。使用NGS鉴定遗传变异体提供了有关猝死致病性的重要信息。
