Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study
| Autor: | Sumaya Al Oraimi, Khoula Al Shidhani, Hasina Al Harthi, Suaad Al Sinani, Nasser Al Busaidi, Muna Al Bimani, Qasem Al Salmi, Hussein Al Kindi |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Oman Medical Journal, Vol 37, Iss 6, Pp e444-e444 (2022) |
| Druh dokumentu: | article |
| ISSN: | 1999-768X 2070-5204 |
| DOI: | 10.5001/omj.2022.101 |
| Popis: | Objectives: To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews. Results: A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A’Dhahirah, and A’Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients , respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C. Conclusions: The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions. |
| Databáze: | Directory of Open Access Journals |
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