%0 Journal Article
%T Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.
%A Al Oraimi S
%A Al Shidhani K
%A Al Harthi H
%A Al Sinani S
%A Al Busaidi N
%A Al Bimani M
%A Al Salmi Q
%A Al Kindi H
%J Oman Med J
%V 37
%N 6
%D Nov 2022
%M 36458240
暂无%R 10.5001/omj.2022.101
%X <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.