• Talal Almaghamsi, Wejdan Ba Attiyah, Mona Bahasan, Badi A Alotaibi, Shahad F AlAhmadi, Mehenaz Hanbazazh, Abeer Zakariyah, Rimah A Saleem, Munaifah K AlAnezi, and Yousef Hawsawi.
• From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
• Saudi Med J. 2023 Oct 1; 44 (10): 987994987-994.

ObjectivesTo investigate the geographic distribution of common cystic fibrosis (CF) variants in the western and southern regions of Saudi Arabia.MethodsA retrospective study was conducted on 69 patients diagnosed with CF at King Faisal Specialist Hospital & Research Center, Jeddah. Patient data were collected retrospectively between June 2000 and November 2021. Various parameters were considered, including patient demographic information, CFTR variants, and respiratory cultures.ResultsWe identified 26 CFTR variants in 69 patients with CF, including one novel variant that had not been reported or published before (1549del G) in 2 patients with CF. The 6 most prevalentvariants were as follows: c.1521_1523delCTT (19%), c.1418delG (10.2%), c.579+1G>T (8.8%), c.2988+1G>A (8.8%), c.3419 T>A (7.2%), and c.4124A>C (5.8%). In addition, respiratory cultures revealed that Pseudomonas aeruginosa, Staphylococcus aureus, Haemophilus influenzae, and Streptococcus pneumoniae were highly common among patients with CF.ConclusionThis study highlighted features of patients with CF residing in the Western and Southern regions of Saudi Arabia. Six of the 26 CFTR variants were common in these patients. We also report, for the first time, a novel variant and other CFTR variants that are yet to be reported in Saudi Arabia. These findings could help establish a foundation for cystic fibrosis screening in Saudi Arabia and may assist in clinical diagnosis and prognosis.Copyright: © Saudi Medical Journal.

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