U.S. flag
      An official website of the United States government, Department of Justice.
        Here's how you know
      Here's how you know**Official websites use .gov**
            
            A **.gov** website belongs to an official government organization in the United States.
      **Secure .gov websites use HTTPS**
            
            A **lock** (
            A locked padlock
            ) or **https://** means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites. Menu

      
        close

            
            
                                              About NIJ
        
                    
  
          About NIJ
      
    
          The NIJ Director
          How NIJ Is Organized
          Mission and Guiding Principles
          Research and Development Process
          Strategic Framework
          Assessments of NIJ
          Annual Reports & Reports to Congress
          Staff Directory
          Funding & Awards
        
                    
  
          Funding & Awards
      
    
          Current Funding
          Forthcoming Funding
          Expired Funding
          Awards: Listing of Funded Projects
          Guidance for Applicants and Awardees
          Fellowship & Student Programs
          Travel Scholarships
          NIJ Challenge Program
          Library & Multimedia
        
                    
  
          Library & Multimedia
      
    
          NIJ Journal
          Podcasts
          Publications Listing
          Multimedia Listing
          Rated Practices on CrimeSolutions
          Rated Programs on CrimeSolutions
          Software & Databases
          Datasets
          Patents
          Topics
        
                    
  
          Topics
      
    
          Article Listing
          Corrections
          Courts
          Crime Prevention
          Crimes
          Drugs and Crime
          Equipment and Technology
          Forensic Sciences
          Youth Justice
          Justice System Reform
          Law Enforcement
          Tribal Crime and Justice
          Victims of Crime
          Events
        
                    
  
          Events
      
    
          NIJ 2024 Research Conference
          Scheduled Events
          On-Demand Events
          Research Meetings & Workshops
          NIJ-Hosted Online Training

                            
                                About
          Contact Us
          Subscribe
          Topics A-Z
                  Share
FacebookXLinkedInRedditPinterestEmail Home
                            Library & Multimedia
 Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture
NCJ Number
              307424
Journal

*Cardiovascular Pathology* Volume: 65 Issue: 107540 Dated: 2023
Author(s)
          Sarah Saxton;
                        Gregory Dickinson;
                        Dawei Wang;
                        Bo Zhou;
                        Sung Yon Um;
                        Ying Lin;
                        Lisa Rojas;
                        Barbara A. Sampson;
                        Jason K. Graham;
                        Yingying Tang
Date Published

2023
Annotation
              This document reports on the authors’ retrospective review of cases, using in-house cardiovascular genetic testing, and their analysis of 20 genes associated with familial thoracic aortic dissection or rupture; they conclude that molecular testing of familial TADR-associated genes is a highly effective tool to identify the genetic cause of TADR sudden deaths.
Abstract
              Sudden deaths due to thoracic aortic dissection or rupture (TADR) are often investigated by forensic pathologists in the United States. Up to a quarter of reported TADR result from a highly penetrant autosomal dominant single gene variant. Testing genes associated with familial TADR provides an underlying etiology for the cause of death and informs effective sudden death prevention for at-risk family members. At the New York City Office of Chief Medical Examiner (NYC-OCME), TADR cases are routinely tested by the in-house, CAP-accredited Molecular Genetics Laboratory. In this retrospective study, TADR and cardiovascular cases were reviewed to understand the burden of TADR in sudden deaths, value of molecular diagnostic testing in TADR, and genotype-phenotype correlations in a demographically diverse TADR cohort. Between July 2019 and June 2022, the authors retrospectively reviewed cases with in-house cardiovascular genetic testing at NYC-OCME. They analyzed 20 genes associated with familial TADR using high throughput massive parallel sequencing on postmortem tissues or bloodspot cards, and conducted variant interpretation according to ACMG/AMP guidelines. The genes with the greatest prevalence of P/LPV were FBN1, followed by TGFBR2, TGFBR1, and MYLK. Highly penetrant P/LPV in TGFBR2, FBN1, and TGFBR1 were found in TADR individuals who died younger than 34 years old. Two P/LPV in FBN1 were secondary findings unrelated to cause of death. P/LPV in FBN1 included five truncating variants located in the N-terminal domains and one missense variant involved in the disulfide bonds of the EGF-like domain. All P/LPV in TGFBR1 and TGFBR2 were missense or in-frame deletion variants located in the protein kinase catalytic domain. Three variants were first reported in this study. Molecular testing of familial TADR-associated genes is a highly effective tool to identify the genetic cause of TADR sudden deaths and benefits surviving at-risk families. Publisher Abstract Provided
      
  
          Additional Details
Grant Number(s)
        2018-DU-BX-0204


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Award
        Solving Cases of Sudden Unexpected Natural Death in the Young through Comprehensive Postmortem Genetic Testing
    
  
  
Date Published: January 1, 2023
    
          Downloads
        
                      HTML

Side navigation
  

        

  
  
              NIJ Journal
    
      
            
            
            
      Podcasts
    
      
            
            
            
      Publications Listing
    
      
            
            
            
      Multimedia Listing
    
      
            
            
            
      Rated Practices on CrimeSolutions
    
      
            
            
            
      Rated Programs on CrimeSolutions
    
      
            
            
            
      Software & Databases
    
      
            
            
            
      Datasets
    
      
            
            
            
      PatentsRelated Topics
        
                Research and development
        Medicolegal death investigations
        Evidence analysis and processing
        Forensic biology
        Research and Development in Forensic Science for Criminal Justice Purposes



  
Similar Publications
        
                      Moving Forward While Looking Back: Understanding the Influence of a “Test All” SAK Mandate on Sexual Assault Case Attrition
                  Experimental Results on Data Analysis Algorithms for Extracting and Interpreting Edge Feature Data for Duct Tape and Textile Physical Fit Examinations
                  Identifying COVID-19 Policies and Practice that Juvenile Justice Systems Should Maintain Long-Term: Listening Session 6: Juvenile Court Judges
 Top

      National Institute of Justice

        
        
                        About NIJ
                    About NIJ
      
    
                  How NIJ Is Organized
      
    
                  NIJ Director
      
    
                  Research Disclaimer
      
    
                  Funding & Awards
                    Funding & Awards Home
      
    
                  Awards Listing
      
    
                  Current Funding
      
    
                  Guidance for Applicants and Awardees
      
    
                  Resources
                    Events
      
    
                  Podcasts
      
    
                  Publications
      
    
                  Topics
      
    
                  Multimedia
      
    
                  Reuse Policy
      
    
                  Contacts
                    Contact NIJ
      
    
                  Staff Directory
      
    
                  Submit a FOIA Request
      
    
                  File a Civil Rights ComplaintFacebook
          
                      X
          
                      YouTube
  

      810 7th St. NW, Washington, D.C. 20531
      
              Secondary Footer link menu
            Accessibility
              Plain Language
              Privacy Policy
              Legal Policies and Disclaimer
              No FEAR Act
              Freedom of Information Act
              USA.gov
              Justice.gov