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Mutations in Growth Differentiation Factor 1 (GDF1) are Associated with Ventricular Septal Defect in a Chinese Population
Wang Jing 1 #,Bai Tingting 2,Yan Jinting 3,Wang Binbin 4,Liu Shiming 5,Chen Qiuhong 5,Xie Xiaodong 6,Wang Xi 4,Wu Shinan 7,Zhang Wei 7,Pan Hong 7 *
1.Department of Medical Genetics, School of Basic Medical Sciences, Capital Medical University, Beijing, China
2.The First Affiliated Hospital of Chengdu Medical College, Sichuan, China
3.CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
4.National Research Institute for Family Planning, Beijing, China
5.Qinghai Cardiovascular Diseases Vocational Hospital, Xining, China
6.School of Life Science, Lanzhou University, Lanzhou, China
7. National Research Institute for Family Planning, Beijing, China
*Correspondence author
#Submitted by
Subject:
Funding: Ph.D. Programs Foundation of Ministry of Education of China Grant（No.No.20131107120020）
Opened online:26 August 2016
Accepted by: none
Citation: Wang Jing,Bai Tingting,Yan Jinting.Mutations in Growth Differentiation Factor 1 (GDF1) are Associated with Ventricular Septal Defect in a Chinese Population[OL]. [26 August 2016] http://en.paper.edu.cn/en_releasepaper/content/4701172
 
 
Ventricular septal defect (VSD) is the largest subtype of congenital heart defect (CHD). Previous studies have suggested that mutations of growth/differentiation factor 1 (GDF1) contribute to CHD. This study explored the role of GDF1 in the etiology of VSD. A total of 312 VSD Chinese patients and 250 healthy controls were screened for mutations in the GDF1 gene. Compared with the controls and the public database, one 25-bp deletion (truncation mutation), five point non-synonymous mutations (two located in the protein coding region), and one variant in the 5′-UTR were found in 312 VSD Chinese patients. The dual luciferase assays showed that the c.-47G>C mutation in the 5′-UTR affected the capacity of GDF1 promoter to activate transcription. In the meanwhile, the p.A266T and p.P312T mutations in the mature peptide region repressed the activation of the CAGA-Luc reporter which was the responsive reporter of TGFβ signaling pathway. Our study provides important evidence that GDF1 gene mutations might be associated with VSD.
Keywords:kGDF 1; VSD; Gene Mutation
 
 
 

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