Abstract
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.
Keywords
Publication details
- DOI
- 10.5001/omj.2022.101
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Al Oraimi, S., Al Shidhani, K., Al Harthi, H., Al Sinani, S., Al Busaidi, N., Al Bimani, M., Al Salmi, Q., & Al Kindi, H. (2022). Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study. Oman Medical Journal. https://doi.org/10.5001/omj.2022.101
MLA 9
Al Oraimi, Sumaya, et al. "Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study." Oman Medical Journal, 2022. https://doi.org/10.5001/omj.2022.101.
Chicago (author–date)
Al Oraimi, Sumaya, Khoula Al Shidhani, Hasina Al Harthi, Suaad Al Sinani, Nasser Al Busaidi, Muna Al Bimani, Qasem Al Salmi, and Hussein Al Kindi. 2022. "Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study." Oman Medical Journal. https://doi.org/10.5001/omj.2022.101.
Harvard
Al Oraimi, S., Al Shidhani, K., Al Harthi, H., Al Sinani, S., Al Busaidi, N., Al Bimani, M., Al Salmi, Q. and Al Kindi, H. (2022) 'Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study', Oman Medical Journal. doi:10.5001/omj.2022.101.
Vancouver
Al Oraimi S, Al Shidhani K, Al Harthi H, Al Sinani S, Al Busaidi N, Al Bimani M, et al. Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study. Oman Medical Journal. 2022. doi:10.5001/omj.2022.101
IEEE
S. Al Oraimi, K. Al Shidhani, H. Al Harthi, S. Al Sinani, N. Al Busaidi, M. Al Bimani, Q. Al Salmi, and H. Al Kindi, "Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study," Oman Medical Journal, 2022, doi: 10.5001/omj.2022.101.