Journal
JOURNAL OF BIOMEDICAL SCIENCE
Volume 21, Issue -, Pages -Publisher
BMC
DOI: 10.1186/1423-0127-21-7
Keywords
CITED2; Mutation; Methylation; Congenital heart disease
Categories
Funding
- Health Medicine Research Project of Chongqing Health Inspection Bureau [2009-2-259]
- Natural Science Foundation of Chongqing Science and Technology Commission [C2008BB5071]
- Ministry of Human Resources and Security of China [(2009)116]
- Science Foundation of Chongqing YuZhong District
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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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