Next Article in Journal
Professional biological risk factors of health care workers
Previous Article in Journal
Prevalence of the use of psychoactive substances among students during 2005–2006
Article Menu
Issue 3 (July) cover image

Export Article

Open AccessArticle
Medicina 2018, 54(3), 46;

Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease

Department of Biology, Faculty of Science, Yazd University, Yazd 8915818411, Iran
Department of Cardiac Surgery, Afshar Hospital, Shahid Sadoughi University of Medical Sciences, Yazd 8915818411, Iran
Author to whom correspondence should be addressed.
Received: 14 May 2018 / Revised: 6 June 2018 / Accepted: 14 June 2018 / Published: 19 June 2018
Full-Text   |   PDF [862 KB, uploaded 19 June 2018]   |  


Background and objective: Congenital heart disease (CHD) is the most common birth abnormality in the structure or function of the heart that affects approximately 1% of all newborns. Despite its prevalence and clinical importance, the etiology of CHD remains mainly unknown. Somatic and germline mutations in cardiac specific transcription factor genes have been identified as the factors responsible for various forms of CHD, particularly ventricular septal defects (VSDs), tetralogy of Fallot (TOF), and atrial septal defects (ASDs). p. NKX2.5 is a homeodomain protein that controls many of the physiological processes in cardiac development including specification and proliferation of cardiac precursors. The aim of our study was to evaluate the NKX2.5 gene mutations in sporadic pediatric patients with clinical diagnosis of congenital heart malformations. Materials and methods: In this study, we investigated mutations of the NKX2.5 gene’s coding region in 105 Iranian pediatric patients with non-familial CHD by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP) and direct sequencing. Results: We observed a total of four mutations, of which, two were novel DNA sequence variants in the coding region of exon 1 (c. 95 A > T and c. 93 A > T) and two others were previously reported as single-nucleotide polymorphisms (SNPs), namely rs72554028 (c. 2357 G > A) and rs3729753 (c. 606 G > C) in exon 2. Further, observed mutations are completely absent in normal healthy individuals (n = 92). Conclusion: These results suggest that NKX2.5 mutations are highly rare in CHD patients. However, in silico analysis proves that c.95 A > T missense mutation in NKX2.5 gene is probably pathogenic and may be contributing to the risk of sporadic CHD in the Iranian population. View Full-Text
Keywords: congenital heart disease; NKX2.5; mutation; PCR-SSCP congenital heart disease; NKX2.5; mutation; PCR-SSCP

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Khatami, M.; Mazidi, M.; Taher, S.; Heidari, M.M.; Hadadzadeh, M. Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease. Medicina 2018, 54, 46.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Article Access Statistics



[Return to top]
Medicina EISSN 1010-660X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top