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International Cardiovascular Research Journal
The Official Annually Journal of Cardiovascular Research Center, Shiraz University of Medical Sciences
e-ISSN 2251-9149
p-ISSN 2251-9130
Outline
Genetic Analysis of Congenital Heart Disease in Iranian Pediatric Patients
Authors
Samira Kalayinia
1, Tina Shahani1, Alireza Biglari1, Majid Maleki2, Hassan Rokni-Zadeh3, Nejat Mahdieh2,*
1, Tina Shahani1, Alireza Biglari1, Majid Maleki2, Hassan Rokni-Zadeh3, Nejat Mahdieh2,*1Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IR Iran
2Cardiogenetics Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IR Iran
3Department of Medical Biotechnology and Nanotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IR Iran
*Corresponding Author: Cardiogenetics Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran, Tel: 0098(21)23922294, Fax: 0098(21)22663213, E-mail: [email protected]. Email: [email protected]
Published online:Jun 30, 2019
Article type:Research Article
Received:Dec 17, 2018
Accepted:Mar 12, 2019
How to Cite:Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, et al. Genetic Analysis of Congenital Heart Disease in Iranian Pediatric Patients. Int Cardiovasc Res J. 2019;13(2):e87790. doi:
Abstract
Background:
Congenital Heart Disease (CHD) occurs in nearly 1% of newborns due to genetic and environmental factors. There are many genes involved in CHD. Variants of Gap Junction Protein Alpha 1 (GJA1), Zic Family Member 3 (ZIC3), Nodal Growth Differentiation Factor (NODAL), and Forkhead Box H1 (FOXH1) genes are common to develop CHD.
Objectives:
To date, no study has been published about CHD patients in Iran. Therefore, the present study aimed to evaluate the sequence variants of these genes in Iranian patients.
Methods:
This study was conducted on 73 patients with familial CHD and their family members. Genetic investigations were performed using Polymerase Chain Reaction (PCR) and direct DNA sequencing of the exons and flanking regions of the genes. The variants were evaluated using available online software tools. Mutation taster, PROVEAN, SIFT, PolyPhen-2, and CADD were used to predict the effects of the variants and I-TASSER was applied to evaluate the possible structural effects of the genetic variations.
Results:
c.612G > A, c.717G > A, and c.895C > T in GJA1 were found in the study participants. c.1248T > G in the ZIC3 was observed in a twin with CHD. Besides, c.193 + 12C > T, c.-109T > C, c.494A > G, c.417C > T, and c.357C > T variants were detected in the NODAL gene. Additionally, c.-314T > G, c.175-30C > T, and c.373A > T sequence changes were determined in the FOXH1 gene. Two novel heterozygous variants, namely c.1061C > G and c.-465C > A, were also found in the FOXH1 gene. Bioinformatics analysis indicated that the detected reported/novel variants might not have a damaging effect among Iranian CHD patients.
Conclusion:
The study results indicated the first variation screening of GJA1, ZIC3, NODAL, and FOXH1 genes in Iranian familial CHD patients. The results also suggested a minor role for GJA1, ZIC3, NODAL, and FOXH1 genes in familial CHD pathogenesis. However, their exact role in CHD causation entails further research.
Highlights
References
- 1.The references are available in PDF.
Copyright
© 2019, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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