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.
journal_name
Forensic Sci Intjournal_title
Forensic science internationalauthors
Wang C,Duan S,Lv G,Lai X,Chen R,Lin H,Qiu S,Tang J,Kuang W,Xu Cdoi
10.1016/j.forsciint.2015.08.022subject
Has Abstractpub_date
2015-12-01 00:00:00pages
e20-e25eissn
0379-0738issn
1872-6283pii
S0379-0738(15)00366-7journal_volume
257pub_type
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