{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(17)"],"submitter":["Nguyen Tat T"],"pubmed_abstract":["In forensics, one-third of sudden deaths remain unexplained after a forensic autopsy. A majority of these sudden unexplained deaths (SUDs) are considered to be caused by inherited cardiovascular diseases. In this study, we investigated 40 young SUD cases (<40 years), with non-diagnostic structural cardiac abnormalities, using Targeted NGS (next-generation sequencing) for 167 genes previously associated with inherited cardiomyopathies and channelopathies. Fifteen cases identified 17 variants on related genes including the following: <i>AKAP9</i>, <i>CSRP3</i>, <i>GSN</i>, <i>HTRA1</i>, <i>KCNA5</i>, <i>LAMA4</i>, <i>MYBPC3</i>, <i>MYH6</i>, <i>MYLK</i>, <i>RYR2</i>, <i>SCN5A</i>, <i>SCN10A</i>, <i>SLC4A3</i>, <i>TNNI3</i>, <i>TNNI3K</i>, and <i>TNNT2</i>. Of these, eight variants were novel"],"journal":["Diagnostics (Basel, Switzerland)"],"pagination":["1876"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11394071"],"repository":["biostudies-literature"],"pubmed_title":["Identifying the Pathogenic Variants in Heart Genes in Vietnamese Sudden Unexplained Death Victims by Next-Generation Sequencing."],"pmcid":["PMC11394071"],"pubmed_authors":["Luu Sy H","Tung NV","Dang Viet D","Lien NTK","Ta Van T","Xuan NT","Nguyen Tat T","Hoang NH","Nguyen Thi H","Thanh LT"],"additional_accession":[]},"is_claimable":false,"name":"Identifying the Pathogenic Variants in Heart Genes in Vietnamese Sudden Unexplained Death Victims by Next-Generation Sequencing.","description":"In forensics, one-third of sudden deaths remain unexplained after a forensic autopsy. A majority of these sudden unexplained deaths (SUDs) are considered to be caused by inherited cardiovascular diseases. In this study, we investigated 40 young SUD cases (<40 years), with non-diagnostic structural cardiac abnormalities, using Targeted NGS (next-generation sequencing) for 167 genes previously associated with inherited cardiomyopathies and channelopathies. Fifteen cases identified 17 variants on related genes including the following: <i>AKAP9</i>, <i>CSRP3</i>, <i>GSN</i>, <i>HTRA1</i>, <i>KCNA5</i>, <i>LAMA4</i>, <i>MYBPC3</i>, <i>MYH6</i>, <i>MYLK</i>, <i>RYR2</i>, <i>SCN5A</i>, <i>SCN10A</i>, <i>SLC4A3</i>, <i>TNNI3</i>, <i>TNNI3K</i>, and <i>TNNT2</i>. Of these, eight variants were novel","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-04-08T18:38:27.683Z","creation":"2025-04-04T01:38:25.939Z"},"accession":"S-EPMC11394071","cross_references":{"pubmed":["39272661"],"doi":["10.3390/diagnostics14171876"]}}