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                            Library & Multimedia
 Phenotypic Variations in Carriers of Predicted Protein-truncating Ggenetic Variants in MYBPC3 an Autopsy-based Case Series
NCJ Number
              254104
Journal

*Cardiovascular Pathology* Volume: 37 Dated: November-December 2018 Pages: 30-33
Author(s)
          Nori Williams;
                        Robert Marion;
                        Thomas V. McDonald;
                        Dawei Wang;
                        Bo Zhou;
                        Lucy S. Eng;
                        Sung Yon Lin;
                        Kevin Ruiter;
                        Lisa Rojas;
                        Barbara A. Sampson;
                        Yingying Tang
Date Published

December 2018
Length
              4 pages
Annotation
              The goal of this study was to characterize predicted protein-truncating variants (PTVs) in MYBPC3, the gene most commonly associated with hypertrophic cardiomyopathy (HCM), found in a series of autopsied HCM cases after sudden unexpected cardiac death.
Abstract
              All cases underwent death-scene investigation, gross and microscopic autopsies, toxicological testing, a review of medical records, and a molecular analysis of 95 cardiac genes. The study found four pathogenic PTVs in MYBPC3 among male decedents. All variants were previously submitted to ClinVar without phenotype details. Two PTVs were located in the cardiac-specific myosin S2-binding (M) motif at the N-terminus of the MYBPC3-encoded cMyBP-C protein, and two PTVs were in the non-cardiac-specific C-terminus of the protein. The carriers of two cardiac-specific M-motif PTVs died at age 38 years; their heart weight (HW, g) and body mass index (BMI, kg/m2) ratio were 34.90 (890/25.5) and 23.56 (980/41.6), respectively. In contrast, the carriers of two non-cardiac-specific C-terminal PTVs died at age 57 and 67 years, respectively; their HW and BMI ratio were 14.71 (450/30.6) and 13.98 (600/42.9), respectively. A detailed three-generation family study was conducted in one case. This study showed age-at-death variations among MYBPC3 PTVs carriers in adult males. (publisher abstract modified)
      
  
          Additional Details
Grant Number(s)
        2015-DN-BX-K017
                                2014-DN-BX-K001


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Publication Type
        Research (Applied/Empirical)
                                Report (Study/Research)
                                Report (Grant Sponsored)
                                Program/Project Description


  
  
        
  Award
        Advancing Molecular Diagnostics in Sudden Unexplained Deaths
                                Enhancing Molecular Autopsies through High Throughout Function Assays and Family Studies of Cardiac Arrhythmogenic Variants in Sudden Unexplained Infant Deaths
    
  
  
Date Published: December 1, 2018
    
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