title: Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case.
abstract: Whole exome sequencing (WES) and bioinformatics analysis were used to investigate potential disease-causing gene mutations in a sudden unexplained death syndrome (SUDS) case after autopsy and pathology tests failed to suggest an obvious disease mechanism. Following whole exome sequencing, a 3-step bioinformatics filtering procedure was carried out to identify possible pathogenic genomic features. Single nucleotide variations (SNVs) were analyzed and ranked by likely mutation impact using various open online tools. After screening, we identified G643S as a putative causative heterozygous mutation in the KCNQ1 gene. This mutation has been reported in abnormalities consistent with SUDS, such as IKs in cardiac myocytes, a condition that predisposes for arrhythmias. Our work demonstrates the application of sequencing technology at the whole exome level for determining potential causes of an otherwise unexplained death.
authors.affiliation: Chengdu Sport University, Chengdu, Sichuan 610041, PR China.
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
authors.affiliation: Shenzhen Research Institute of Population and Family Planning, Shenzhen, Guangdong 518040, PR China.
authors.forename: Shan
authors.initials: S
authors.lastname: Duan
authors.affiliation: Guangzhou institute of Forensic Science, Guangzhou, Guangdong 510030, PR China.
authors.forename: Guoli
authors.initials: G
authors.lastname: Lv
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Lai
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Hanguang
authors.initials: H
authors.lastname: Lin
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Shengyuan
authors.initials: S
authors.lastname: Qiu
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Jianpin
authors.initials: J
authors.lastname: Tang
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China.
authors.forename: Wenjian
authors.initials: W
authors.lastname: Kuang
authors.affiliation: Guangdong Medical College, Dongguan, Guangdong 523808, PR China. Electronic address: chuanchaoxu_GDMC@hotmail.com.
authors.forename: Chuanchao
authors.initials: C
authors.lastname: Xu
mesh_terms: D000328:Adult; D003645:Death, Sudden / Q000209:etiology*; D059472:Exome / Q000235:genetics*; D053803:Forensic Genetics; D005820:Genetic Testing; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human
keywords: Disease mutations; Exome; Forensic bioinformatics; Forensic science; Second-generation sequencing; Sudden unexplained death syndrome (SUDS)