GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot.

Autor:	El Bouchikhi I; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco.; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco., Belhassan K; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco., Moufid FZ; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco.; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco., Houssaini MI; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco., Bouguenouch L; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco., Samri I; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco., Bouhrim M; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco., Ouldim K; Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco., Atmani S; Medico-Surgical Unit of Cardio-Pediatrics, Department of Pediatrics, HASSAN II University Hospital, Fez, Morocco.
Jazyk:	angličtina
Zdroj:	African health sciences [Afr Health Sci] 2018 Dec; Vol. 18 (4), pp. 922-930.
DOI:	10.4314/ahs.v18i4.11
Abstrakt:	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 5 th April 2014 and 18 th 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 Fallot.
Databáze:	MEDLINE
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