• Ihssane El Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Laila Bouguenouch, Imane Samri, Mohamed Bouhrim, Karim Ouldim, and Samir Atmani.
• Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco.
• Afr Health Sci. 2018 Dec 1; 18 (4): 922-930.

BackgroundTetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD) with an incidence of 1/3600 live births. This disorder was associated with mutations in the transcription factors involved in cardiogenesis, like Nk2 homeobox5 (NKX2-5), GATA binding protein4 (GATA4) and T-BOX1 (TBX1). GATA4 contributes particularly to heart looping and differentiation of the second heart field.ObjectivesThe aim of this study was to screen a Moroccan cohort with tetralogy of Fallot for GATA4 mutations, and to assess environmental risk factors that could be involved in the occurrence of this disorder.MethodsThirty-one non-syndromic TOF patients, enrolled between 5th April 2014 and 18th June 2015, were screened for GATA4 mutations using direct sequencing of GATA4 coding exons. Statistical assessment of different risk factors, which is a retrospective study, was carried out using Chi-square and Fisher's exact tests.ResultsWe identified seven exonic variants in nine patients (two missense and five synonymous variants); in addition of eight intronic variants. Assessment of environmental risk factors shows significant association of maternal passive smoking with TOF in the Moroccan population.ConclusionThe present study allowed, for the first time, the molecular and environmental characterisation of Moroccan TOF population. Our findings emphasise particularly the strong association of passive smoking with the emergence of tetralogy of Fallot.

29 keywords...

hide…