Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.

International Journal of Legal Medicine
Jeppe D AndersenNiels Morling

Abstract

Sudden cardiac death (SCD) is a major public health problem and constitutes a diagnostic and preventive challenge in forensic pathology, especially for cases with structural normal hearts at autopsy, so-called sudden arrhythmic death syndrome (SADS). The identification of new genetic risk factors that predispose to SADS is important, because they may contribute to establish the diagnosis and increase the understanding of disease pathways underlying SADS. Pathogenic mutations in the protein coding regions of cardiac genes were found in relation to SADS. However, much remains unknown about variants in non-coding regions of the genome. In this study, we explored the potential of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) to find DNA variants in SCD victims with structural normal hearts. With focus on the non-coding regulatory regions, we re-examined a cohort of 13 SADS and sudden unexplained death in infancy (SUDI) victims without disease causing DNA variants in recognized cardiac genes. The genetic re-examination of DNA was carried out using frozen tissue samples and WTS was carried out using five distinct formalin fixed and paraffin embedded (FFPE) cardiac tissue samples from each individual, includin...Continue Reading

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Citations

Jan 13, 2021·Journal of the American Heart Association·Lauren E Parker, Andrew P Landstrom
Mar 7, 2021·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Meihui TianHao Pang
Mar 4, 2021·Forensic Science International. Genetics·Cordula HaasJack Ballantyne
Apr 4, 2021·International Journal of Molecular Sciences·Steffan Noe ChristiansenNiels Morling
May 12, 2021·International Journal of Legal Medicine·Sofie Lindgren ChristiansenNiels Morling
Aug 28, 2021·Experimental and Therapeutic Medicine·Nenghua ZhangGengqian Zhang

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