Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot

Background: Tetralogy of Fallot (TOF), the most common cyanotic heart defect and one of the most common congenital heart diseases, occurs mostly sporadically and nonsyndromically. The underlying molecular genetic mechanism is not known. Therefore, the existence of mutations in the homeodomain-encodi...

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Published in:Journal of research in medical sciences 2016-01, Vol.21 (1), p.24-24
Main Authors: Kheirollahi, Majid, Khosravi, Fereshteh, Ashouri, Saeideh, Ahmadi, Alireza
Format: Article
Language:English
Subjects:
Cardiac defect
Congenital diseases
Defects
Deoxyribonucleic acid
DNA
Gene mutation
Genes
Heart
Hospitals
Iranian patient
Mutation
NKX2.5 gene
Original
Patients
Polymerase chain reaction
Risk factors
Studies
Tetralogy of Fallot
tetralogy of Fallot (TOF)
Transcription factors
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Summary:Background: Tetralogy of Fallot (TOF), the most common cyanotic heart defect and one of the most common congenital heart diseases, occurs mostly sporadically and nonsyndromically. The underlying molecular genetic mechanism is not known. Therefore, the existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot is evaluated. Materials and Methods: In the present study, we analyzed the peripheral blood samples of27 patients in order to find any mutation in the 180 bp homeodomain-encoding region of NKX2.5 gene, which is known to be involved in heart development and diseases. DNA was extracted and all the samples were amplified by polymerase chain reaction (PCR) and sequenced. Results: Twenty-seven patients were included in the study. Twenty-five of them were infants and children (6 days to 11 years of age), one was a teenager (14-years of age), and another was a 33-year-old man [mean ± standard deviation (SD): 5.80 ± 3.90 years]. Thirteen patents were males (mean ± SD: 6.587077 ± 5.02 years) and 14 were females (mean ± SD: 5.0726 ± 2.81 years). One synonymous variant, i.e., c.543G>A was identified in one patient. Conclusion: Mutations in the homeodomain-encoding region of NKX2.5 gene may not have an outstanding role in etiology of tetralogy of Fallot patients in Iran.
ISSN:1735-1995
1735-1995
1735-7136
DOI:10.4103/1735-1995.179893