Zhang, ZiguanZiguanZhangChen, HongweiHongweiChenChen, WenboWenboChenZhang, ZhenghaoZhenghaoZhangLi, RunjingRunjingLiXu, JiajiaJiajiaXuYang, CuiCuiYangChen, MinweiMinweiChenLiu, ShixiaoShixiaoLiuLi, YanlingYanlingLiTZUNG-DAU WANGTu, XinXinTuHuang, ZhengrongZhengrongHuang2024-03-202024-03-2020212297-055Xhttps://www.scopus.com/record/display.uri?eid=2-s2.0-85175523900&doi=10.3389%2ffcvm.2021.714844&origin=inward&txGid=ee35114579372718f1fe0ca89a517dachttps://scholars.lib.ntu.edu.tw/handle/123456789/641135Objective: To investigate the genetic characteristics and transcriptional regulation of the SCN5A gene of Brugada syndrome (BrS) patients in China. Methods: Using PubMed, Medline, China National Knowledge Internet (CNKI), and Wanfang Database, Chinese patients with BrS who underwent SCN5A gene testing were studied. Results: A total of 27 suitable studies involving Chinese BrS patients who underwent the SCN5A gene test were included. A total of 55 SCN5A gene mutations/variations were reported in Chinese BrS patients, including 10 from southern China and 45 from northern China. Mutations/variations of BrS patients from southern China mostly occurred in the regions of the α-subunit of Nav1.5, including DIII (Domain III), DIV, DIII-DIV, C-terminus regions, and the 3'UTR region. Furthermore, we analyzed the post-transcriptional modifications (PTMs) throughout the Nav1.5 protein encoded by SCN5A and found that the PTM changes happened in 72.7% of BrS patients from southern China and 26.7% from northern China. Conclusions: SCN5A mutations/variations of BrS patients in southern China mostly occurred in the DIII-DIV to C-terminus region and the 3'-UTR region of the SCN5A gene, different from northern China. PTM changes were consistent with the mutation/variation distribution of SCN5A, which might be involved in the regulation of the pathogenesis of BrS patients.enChina; SCN5A; brugada; genetic characteristics; post-transcriptional modifications[SDGs]SDG3journal article10.3389/fcvm.2021.714844344229362-s2.0-85175523900https://api.elsevier.com/content/abstract/scopus_id/85175523900