English 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 100000 individuals. Premarital genetic counseling and preimplantation
genetic testing are recommended in CF-prevalent regions.
