Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing.
- Author:
Chun WANG
;
Hui WANG
;
Xin-shu XU
;
Chuan-chao XU
;
Xiao-ping LAI
;
Rui CHEN
;
Han-guang LIN
;
Sheng-yuan QIU
- Publication Type:Journal Article
- MeSH:
Autopsy;
Brugada Syndrome/genetics*;
Cause of Death;
DNA Mutational Analysis/methods*;
Death, Sudden/etiology*;
Exome;
Gene Frequency;
Genetic Testing/methods*;
High-Throughput Nucleotide Sequencing/methods*;
Humans;
Molecular Biology;
Molecular Diagnostic Techniques/methods*;
Molecular Sequence Data;
Mutation
- From:
Journal of Forensic Medicine
2015;31(6):436-444
- CountryChina
- Language:Chinese
-
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.
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.
