Abstract
BackgroundTetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-riding aorta, and right ventricular hypertrophy. The present study aims to reveal the spectrum of Nk2 homeobox 5 (NKX2-5) variants identified in a Moroccan non-syndromic tetralogy of Fallot cohort and to compare mutation rate with different studies from all over the world. Thirty-one patients with non-syndromic tetralogy of Fallot were recruited in this cross-sectional study. DNAs were extracted, and coding regions of NKX2.5 were PCR-amplified and sequenced. The obtained sequences were analyzed using different bioinformatics tools. Statistical comparisons were carried out using the R software.ResultsR25C mutation was found in two patients, in association with the E21E variant. The latter variant was frequently observed in the population and seems to have a potential altering effect on the splicing process. The NKX2.5 mutation rate in our tetralogy of Fallot population is around 6.4%, and no significant difference was noticed in comparison with previous studies. At the same time, a comparison of R25C mutation rate between atrial septal defect and tetralogy of Fallot worldwide populations shows a particular association of R25C mutation with tetralogy of Fallot phenotype.ConclusionsThis study reveals a consistency between our NKX2.5 mutation rate and those of different tetralogy of Fallot populations around the world. Our findings suggest a possible combined effect of R25C mutation and E21E variant on the carriers and emphasize particularly the significant association of R25C mutation with tetralogy of Fallot, which highlights the importance of an anticipative screening for TOF phenotype among the carriers’ offspring at the perinatal period.
Highlights
Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births
Genetic etiology involved in non-syndromic tetralogy of Fallot includes most often cardiac transcription factors, such as Nk2 homeobox 5 (NKX2-5) (5q35), GATA-binding protein 4 (GATA4) (8p23.1), and T-BOX 1 (TBX1) (22q11.21)
Thirty-one patients suffering from tetralogy of Fallot were screened for NKX2.5 mutations
Summary
Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-riding aorta, and right ventricular hypertrophy. Congenital heart disease (CHD) is the most common form of birth anomalies, with a prevalence of 1% of newborns [1] This congenital disorder results from both genetic and environmental etiologies and is considered the first non-infectious cause of death in the first year of life [2, 3]. Tetralogy of Fallot (TOF) constitutes the most prevalent cyanotic congenital heart disease, occurring in 1/3 of 600 live births and accounting for 6.8% of congenital heart diseases [4, 5] This right-to-left shunt disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-riding aorta, and right ventricular hypertrophy. In the normal cardiogenesis process, these genes contribute to the differentiation of the second heart field (SHF) and the heart looping [7,8,9,10]
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