Int J Cardiol. 2011 Jan 21;146(2):225-7. doi: 10.1016/j.ijcard.2009.08.046. Epub 2009 Oct 24.
The goal of our study was to identify potential pathogenic mutations in the TDGF1 gene in Chinese people with isolated CHD, particularly those with VSD, and to provide further insight into the etiology of CHD. A total of 500 CHD Chinese patients were investigated for mutations in the TDGF1 gene. Thirteen variants were found among the 500 isolated VSD patients and 250 controls, including one non-synonymous variant identified in patients but not in controls. This work firstly provides human genetic evidence of TDGF1 involved in the pathogenesis of VSD, expanding our knowledge of the causative mutations of congenital heart defects, in particular, the causative mutations of VSD.
本研究的目的是在中国单纯 CHD 患者中（尤其是 VSD 患者），鉴定 TDGF1 基因中的潜在致病性突变，从而进一步深入了解 CHD 的病因。我们共研究了 500 名 CHD 中国患者的 TDGF1 基因突变情况。在 500 名单纯 VSD 患者和 250 名对照者中发现了 13 种变异，其中包括患者中存在而对照者中不存在的一个非同义变异。该研究首次提供了人类遗传证据，表明 TDGF1 参与了 VSD 的发病机制，扩展了我们对先天性心脏缺陷（尤其是 VSD）致病突变的认识。
