Submitted: 16 May 2019
Revised: 16 Jun 2019
Accepted: 23 Jun 2019
First published online: 02 Jul 2019
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Int J Basic Sci Med. 2019;4(2):45-50.
doi: 10.15171/ijbsm.2019.10
  Abstract View: 272
  PDF Download: 233

Review article

The Contribution of Gene Mutations to the Pathogenesisof Tetralogy of Fallot

Amin Safari-Arababadi 1, 2, Mostafa Behjati-Ardakani 3 * ORCiD, Seyed Mehdi Kalantar 4, Mojtaba Jaafarinia 1, 2

1 Department of Molecular Genetics, Fars Science and Research Branch, Islamic Azad University, Shiraz, Iran
2 Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
3 Yazd Cardiovascular Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4 Genetic and Reproductive Unit, Recurrent Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran


Congenital heart disease (CHD) is considered as an important and developing area in the medical community. Since these patients can reach maturity and have children, the role of genetic determinants in increasing risk of CHD is extremely evident among children of these patients. Because genetic studies related to CHD are increasing, and each day the role of new genetic markers is more and more clarified, this review re-examined the effects of gene mutations in the pathogenesis of tetralogy of Fallot (TOF) as an important pathological model among other CHDs. Due to the complexity of heart development, it is not astonishing that numerous signaling pathways and transcription factors, and many genes are involved in pathogenesis of TOF. This review focuses on the jag1, nkx2.5, gata4, zfpm2/fog2 and cited2 genes previously reported to be involved in TOF.
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