CITED2 Mutation and methylation in children with congenital heart disease

被引:38
|
作者
Xu, Min [1 ,3 ]
Wu, Xiaoyun [1 ]
Li, Yonggang [2 ]
Yang, Xiaofei [1 ,3 ]
Hu, Jihua [1 ,3 ]
Zheng, Min [1 ,3 ]
Tian, Jie [1 ]
机构
[1] Chongqing Med Univ, Dept Cardiol, Childrens Hosp, Chongqing 400014, Peoples R China
[2] Chongqing Med Univ, Dept Cardiothorac Surg, Childrens Hosp, Chongqing 400014, Peoples R China
[3] Chongqing Int Sci & Technol Cooperat Ctr Child De, Minist Educ, Key Lab Child Dev & Disorders, Key Lab Pediat Chongqing, Chongqing, Peoples R China
关键词
CITED2; Mutation; Methylation; Congenital heart disease; PROMOTER METHYLATION; NEGATIVE REGULATOR; GENE-EXPRESSION; DNA METHYLATION; DOWN-REGULATION; DEFECTS; HYPERMETHYLATION; IDENTIFICATION; EXPOSURE; PROTEIN;
D O I
10.1186/1423-0127-21-7
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Background: The occurrence of Congenital Heart Disease (CHD) is resulted from either genetic or environmental factors or the both. The CITED2 gene deletion or mutation is associated with the development of cardiac malformations. In this study, we have investigated the role of CITED2 gene mutation and methylation in the development of Congenital Heart Disease in pediatric patients in China. Results: We have screened 120 pediatric patients with congenital heart disease. Among these patients, 4 cases were detected to carry various CITED2 gene heterozygous mutations (c.550G > A, c.574A > G, c.573-578del6) leading correspondingly to the alterations of amino acid sequences in Gly184Ser, Ser192Gly, and Ser192fs, respectively. No CITED2 gene mutations were detected in the control group. At the same time, we found that CITED2 mutations could inhibit TFAP2c expression. In addition, we have demonstrated that abnormal CITED2 gene methylation was detected in most of the tested pediatric patients with CHD, which leads to a decrease of CITED2 transcription activities. Conclusions: Our study suggests that CITED2 gene mutations and methylation may play an important role in the development of pediatric congenital heart disease.
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页数:8
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