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 PGMTM 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. Conclusion 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.

Key words: forensic genetics, forensic pathology, mutation, sudden unexplained death syndrome, whole exome sequencing