title: NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.
abstract: OBJECTIVE
  Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's 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.
  
  
  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 Fisher's 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Medical 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. ihssane.elbouchikhi@usmba.ac.ma.
authors.forename: Ihssane
authors.initials: I
authors.lastname: El Bouchikhi
authors.affiliation: Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco.
authors.forename: Laila
authors.initials: L
authors.lastname: Bouguenouch
authors.affiliation: Medical 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.
authors.forename: Fatima
authors.initials: F
authors.lastname: Zohra Moufid
authors.affiliation: Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah; Fez-Morocco.
authors.forename: Mohammed Iraqui
authors.initials: MI
authors.lastname: Houssaini
authors.affiliation: Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco.
authors.forename: Khadija
authors.initials: K
authors.lastname: Belhassan
authors.affiliation: Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco.
authors.forename: Imane
authors.initials: I
authors.lastname: Samri
authors.affiliation: Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah; Fez-Morocco.
authors.forename: Ayoub Tahri
authors.initials: AT
authors.lastname: Joutei
authors.affiliation: Medical Genetics and Oncogenetics Unit, Hassan II University Hospital; Fez-Morocco.
authors.forename: Karim
authors.initials: K
authors.lastname: Ouldim
authors.affiliation: Medico-surgical Unit of Pediatric Cardiology, Department of Pediatrics, Hassan II University Hospital; Fez-Morocco.
authors.forename: Samir
authors.initials: S
authors.lastname: Atmani
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5 / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009018:Morocco / Q000453:epidemiology; D012189:Retrospective Studies; D012307:Risk Factors; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D000072576:Homeobox Protein Nkx-2.5; C095552:NKX2-5 protein, human