التفاصيل البيبلوغرافية
| العنوان: |
NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population. |
| المؤلفون: |
El Bouchikhi, Ihssane1,2 ihssane.elbouchikhi@usmba.ac.ma, Bouguenouch, Laila1, Moufid, Fatima Zohra1,2, Houssaini, Mohammed Iraqui2, Belhassan, Khadija1, Samri, Imane1, Joutei, Ayoub Tahri2, Ouldim, Karim1, Atmani, Samir3 |
| المصدر: |
Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi. Mar2017, Vol. 17 Issue 3, p217-223. 7p. |
| مصطلحات موضوعية: |
*ATRIAL septal defects, *HEART septum abnormalities, *GENETIC testing, *MOROCCANS, *PUBLIC health, *CONSANGUINITY, *DIAGNOSIS, *DISEASES, *DISEASE risk factors |
| مصطلحات جغرافية: |
MOROCCO |
| مستخلص: |
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. 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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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