GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot|
EL Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Houssaini, Mohammed Iraqui; Bouguenouch, Laila; Samri, Imane; Bouhrim, Mohamed; Ouldim, Karim & Atmani, Samir
Background: Tetralogy 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.
Objectives: The 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.
Methods: Thirty-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.
Results: We 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.
Conclusion: The 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
Tetralogy of Fallot; GATA4; molecular screening; risk factors.