NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan populationIhssane El Bouchikhi1, Laila Bouguenouch2, Fatima Zohra Moufid1, Mohammed Iraqui Houssaini3, Khadija Belhassan2, Imane Samri2, Ayoub Tahri Joutei3, Karim Ouldim2, Samir Atmani4
1Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah; Fez-Morocco
2Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco
3Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah; Fez-Morocco
4Medico-surgical Unit of Pediatric Cardiology, Department of Pediatrics, Hassan II University Hospital; Fez-Morocco
Objective: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., motherís exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder.Keywords: atrial septal defect, genetic screening, Moroccan population, NKX2-5, risk factors, variant rate
Methods: Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reactionamplified coding regions. Risk factor rates were compared to general population and assessed using Fisherís exact and chi-square tests. In this retrospective study, criteria of exclusion were suggestive or confirmed syndrome association.
Results: Three heterozygous variants were detected in 4 patients. NKX2-5 variant rate in present cohort is estimated to be about 9.4%. Two prominent risk factors in the Moroccan population were highlighted: consanguinity, rate of which was significantly high at 30.8%, and previous maternal miscarriage or sibling sudden death, observed in 34.6% of cohort.
Conclusion: Impact of identified variants was discussed and possible disease-predisposing effect is suggested. Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. High level of maternal miscarriage and sibling sudden death suggests potential non-sporadic nature as result of putative genetic defect. (Anatol J Cardiol 2016; 16: 000-00)
Corresponding Author: Ihssane El Bouchikhi, Morocco