Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, China.
World J Pediatr. 2013 Aug;9(3):278-80. doi: 10.1007/s12519-013-0430-4. Epub 2013 Aug 9.
The hematopoietically expressed homeobox (HHEX) gene is an important determinant of mammalian heart development. This study aimed to identify the potential mutations of the gene in Chinese patients with congenital heart disease (CHD).
We collected 296 CHD patients and 200 controls, and classified the cardiac deformities. Then we conducted sequence analyses of the HHEX gene in those patients.
In all the CHD patients, we did not find any causative mutations in the coding region of the HHEX gene.
To our knowledge, this is the first study to examine the HHEX gene in non-symptomatic CHD cases, and this has expanded our knowledge about its etiology.
造血表达同源盒（HHEX）基因是哺乳动物心脏发育的重要决定因素。本研究旨在鉴定中国先天性心脏病（CHD）患者中该基因的潜在突变。
我们收集了 296 例 CHD 患者和 200 例对照，对心脏畸形进行分类。然后，我们对这些患者的 HHEX 基因进行了序列分析。
在所有 CHD 患者中，我们未发现 HHEX 基因编码区的任何致病突变。
据我们所知，这是首次在无症状 CHD 病例中研究 HHEX 基因，这扩展了我们对其病因的认识。
