{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:16:52Z","timestamp":1790709412813,"version":"4.1.0"},"reference-count":0,"publisher":"Oman Medical Journal","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oman Med J"],"abstract":"<jats:p>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\u2019Dhahirah, and A\u2019Dakhiliyah. 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&gt;A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G&gt;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.<\/jats:p>","DOI":"10.5001\/omj.2022.101","type":"journal-article","created":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T07:37:35Z","timestamp":1655278655000},"page":"e444-e444","source":"Crossref","is-referenced-by-count":12,"title":["Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study"],"prefix":"10.5001","volume":"37","author":[{"given":"Sumaya","family":"Al Oraimi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khoula","family":"Al Shidhani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasina","family":"Al Harthi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suaad","family":"Al Sinani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasser","family":"Al Busaidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muna","family":"Al Bimani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qasem","family":"Al Salmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussein","family":"Al Kind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2907","published-online":{"date-parts":[[2022,11,30]]},"container-title":["Oman Medical Journal"],"original-title":[],"deposited":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T11:27:58Z","timestamp":1667215678000},"score":1,"resource":{"primary":{"URL":"https:\/\/omjournal.org\/articleDetails.aspx?coType=1&aId=3258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,30]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,11,30]]}},"URL":"https:\/\/doi.org\/10.5001\/omj.2022.101","relation":{},"ISSN":["1999-768X","2070-5204"],"issn-type":[{"value":"1999-768X","type":"print"},{"value":"2070-5204","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,30]]}}}