title: [Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing].
abstract: OBJECTIVE
  To find the mutation of disease-causing genes of sudden unexplained death syndrome (SUDS) in the young by whole exome sequencing in one case.
  
  
  METHODS
  One SUDS case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGM™ System with hg19 as reference sequence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nucleotide variation (SNV), which was missense mutation with allele frequency < 1% of myocardial cell.
  
  
  RESULTS
  Four rare suspicious pathogenic SNV were identified. Combined with the analysis of conventional autopsy and pathological examination, the mutation MYOM2 (8_2054058_G/A) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively.
  
  
  CONCLUSIONS
  Based on the second generation sequencing technology, analysis of whole exome sequencing can be a new method for the death cause investigation of SUDS. The gene MYOM2 is a new candidate SUDS pathogenic gene for mechanism research.
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Xin-shu
authors.initials: XS
authors.lastname: Xu
authors.forename: Chuan-chao
authors.initials: CC
authors.lastname: Xu
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Lai
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.forename: Han-guang
authors.initials: HG
authors.lastname: Lin
authors.forename: Sheng-yuan
authors.initials: SY
authors.lastname: Qiu
mesh_terms: D001344:Autopsy; D053840:Brugada Syndrome / Q000235:genetics*; D002423:Cause of Death; D004252:DNA Mutational Analysis / Q000379:methods; D003645:Death, Sudden / Q000209:etiology*; D059472:Exome; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008967:Molecular Biology; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D008969:Molecular Sequence Data; D009154:Mutation