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                            Library & Multimedia
 Molecular Autopsy: Identification, Verification and Reporting Of Genetic Markers Associated With Sudden Infant Death Syndrome and Young Sudden Unexplained Death Victims
NCJ Number
              251811

Author(s)
          D. Nicole R. Methner;
                        Steven E. Scherer;
                        Katherine  Welch;
                        Magdalena  Walkiewicz;
                        Christine M. Eng;
                        John W. Belmont;
                        Mark C. Powell;
                        Dwayne A. Wolf;
                        Luis A. Sanchez;
                        Roger  Kahn
Date Published

July 2017
Length
              44 pages
Annotation
              Since heritable genetic variants have been suggested as the cause of up to a third of sudden death (SD) cases of infants, children, and young adults, this project developed cost-effective genetic screening for autopsy by sequencing full exons of 64 genes associated with SD in the largest known cohort (n=351) of infant and young SD decedents, using next-generation sequencing technology at less than $600 per sample.
Abstract
              Putative causal genetic variants were assessed using a literature review and clinical evaluation by a multidisciplinary consortium of experts. The study found that 13 (3.7 percent) of the cohort had a causal genetic variant that resulted in SD. The 13 consisted of 8 infants (2.8 percent of those less than 1 year old) and 5 children/young adults( 7 percent of those greater than 1 year old). These variants were observed in 10 of 64 genes tested. Combined with the large cohort size and multidisciplinary screening of putative pathogenic genetic variants, these percentages represent an estimate lower than those previously reported. This report concludes that this project has demonstrated a cost-effective strategy for molecular autopsies in medicolegal investigations of young SD decedents. 5 tables, 2 figures, and 50 references
      
  
          Additional Details
Grant Number(s)
        2010-DN-BX-K230


  
  
        
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        NIJ-Sponsored


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


  
  
        
  Award
        Genetic Markers Associated with Sudden Unexplained Death or Sudden Infant Death
    
  
  
Date Published: July 1, 2017
    
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