{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:05:57Z","timestamp":1767135957330,"version":"build-2238731810"},"reference-count":61,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T00:00:00Z","timestamp":1691366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Brugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia.\n                      <jats:italic>SCN5A<\/jats:italic>\n                      pathogenic variants (about 30% of diagnosed patients) are responsible for BrS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Lack of knowledge regarding molecular characteristics and the correlation between genotype and phenotype interfere with the risk stratification and finding the optimal treatment in Vietnam. Therefore, we identified\n                      <jats:italic>SCN5A<\/jats:italic>\n                      variants and evaluated the genotype\u2013phenotype correlation of BrS on 117 Vietnamese probands.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>\n                      The clinical characteristics and blood samples of BrS patients were collected. To determine\n                      <jats:italic>SCN5A<\/jats:italic>\n                      variants, Sanger sequencing was conducted, and subsequently, these variants were analyzed by bioinformatic tools.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In this cohort, the overall rate of detected variants in\n                      <jats:italic>SCN5A<\/jats:italic>\n                      was 25.6%, which could include both pathogenic and benign variants. In genetic testing, 21\n                      <jats:italic>SCN5A<\/jats:italic>\n                      variants were identified, including eight novels and 15 published variants. Multiple bioinformatic tools were used to predict variant effect with c.551A&gt;G, c.1890+14G&gt;A, c.3338C&gt;T, c.3578G&gt;A, and c.5484C&gt;T as benign, while other variants were predicted as disease\u2010causing. The family history of SCD (risk ratio [RR]\u2009=\u20094.324, 95% CI: 2.290\u20138.269,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), syncope (RR\u2009=\u20093.147, 95% CI: 1.668\u20135.982,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0004), and ventricular tachycardia\/ventricular fibrillation (RR\u2009=\u20093.406, 95% CI: 1.722\u20135.400,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0035) presented a significantly higher risk in the\n                      <jats:italic>SCN5A<\/jats:italic>\n                      (+) group, consisting of individuals carrying any variant in the\n                      <jats:italic>SCN5A<\/jats:italic>\n                      gene, compared to\n                      <jats:italic>SCN5A<\/jats:italic>\n                      (\u2212) individuals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The results contribute to clarifying the impact of\n                      <jats:italic>SCN5A<\/jats:italic>\n                      variants on these phenotypes. Further follow\u2010up studies need to be carried out to understand the functional effects of these\n                      <jats:italic>SCN5A<\/jats:italic>\n                      variants on the severity of BrS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2263","type":"journal-article","created":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T04:37:29Z","timestamp":1691383049000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["In silico validation revealed the role of\n                    <scp>\n                      <i>SCN5A<\/i>\n                    <\/scp>\n                    mutations and their genotype\u2013phenotype correlations in Brugada syndrome"],"prefix":"10.1002","volume":"11","author":[{"given":"Hung Manh","family":"Pham","sequence":"first","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Vietnam National Heart Institute Bach Mai Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duy Phuong","family":"Dang","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Ho Chi Minh City Heart Institute  Ho Chi Minh Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3290-427X","authenticated-orcid":false,"given":"Thanh Dat","family":"Ta","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Phuong","family":"Le","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinh Phong","family":"Phan","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Vietnam National Heart Institute Bach Mai Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoai An","family":"Trinh","sequence":"additional","affiliation":[{"name":"Hue Central Hospital  Hue Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuan Viet","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Vietnam National Heart Institute Bach Mai Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Lan Anh","family":"Luong","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ha 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