Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People

IF 1.2 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

International heart journal Pub Date : 2024-01-31 DOI:10.1536/ihj.23-252

Aya Miura, Takuma Yamamoto, Kazuhisa Funayama, Akihide Koyama, Hisakazu Takatsuka, Takako Sato, Hajime Nishio

{"title":"Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People","authors":"Aya Miura, Takuma Yamamoto, Kazuhisa Funayama, Akihide Koyama, Hisakazu Takatsuka, Takako Sato, Hajime Nishio","doi":"10.1536/ihj.23-252","DOIUrl":null,"url":null,"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.\n","PeriodicalId":13711,"journal":{"name":"International heart journal","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International heart journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1536/ihj.23-252","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

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.

查看原文本刊更多论文

尸检鉴定与年轻人意外猝死有关的基因变异

年轻人意外猝死（SUDY）对其家人来说是一种创伤；然而，目前还缺乏与该病症相关的基因变异信息。对猝死病例进行死后基因分析非常重要，可为亲属提供信息，并进行适当的遗传咨询和临床随访。本研究旨在利用新一代测序技术（NGS）调查与日本 SUDY 发生相关的基因变异。研究纳入了 18 例接受尸检的 SUDY 病例（男性 16 例，女性 2 例；年龄 15-47 岁），包括进行分子分析的 NGS DNA 测序。研究人员从测序面板中选取了 168 个基因并进行了筛选，最终确定了 60 个心脏疾病相关基因的变异。许多病例都有多个这样的基因变异，有些病例还有心脏表型。利用 NGS 鉴定基因变异为猝死的致病性提供了重要信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

International heart journal 医学-心血管系统

CiteScore

2.50

自引率

6.70%

发文量

148

审稿时长

6-12 weeks

期刊介绍： Authors of research articles should disclose at the time of submission any financial arrangement they may have with a company whose product figures prominently in the submitted manuscript or with a company making a competing product. Such information will be held in confidence while the paper is under review and will not influence the editorial decision, but if the article is accepted for publication, the editors will usually discuss with the authors the manner in which such information is to be communicated to the reader.