The HHEX gene is not related to congenital heart disease in 296 Chinese patients

Xiao-Peng Deng, Li-Xi Zhao, Bin-Bin Wang, Jing Wang, Long-Fei Cheng, Zhi Cheng, Pei-Su Suo, Hui Li, Xu Ma

Shenyang and Beijing, China

Author Affiliations: Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, China (Deng XP, Li H); Graduate School of Peking Union Medical College, Beijing 100730, China (Zhao LX, Wang BB, Wang J, Cheng LF, Cheng Z, Suo PS, Ma X); National Research Institute for Family Planning, Beijing 100081, China (Zhao LX, Wang BB, Wang J, Cheng LF, Cheng Z, Suo PS, Ma X); World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing 100081, China (Ma X)

Corresponding Author: Hui Li, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China (Tel: +86 024 83955179; Fax: +86 024 83955092; Email: FCKLIHUI@126.com)

doi: 10.1007/s12519-013-0430-4

Background: 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).

Methods: 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.

Results: In all the CHD patients, we did not find any causative mutations in the coding region of the HHEX gene.

Conclusion: 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.

Key words: congenital heart disease; genetics; HHEX; transcription factor

World J Pediatr 2013;9(3):278-280