Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia

• Published in: Saudi medical journal 2023-10, Vol.44 (10), p.987-994
• Main Authors: Almaghamsi, Talal, Attiyah, Wejdan Ba, Bahasan, Mona, Alotaibi, Badi A, AlAhmadi, Shahad F, Hanbazazh, Mehenaz, Zakariyah, Abeer, Saleem, Rimah A, AlAnezi, Munaifah K, Hawsawi, Yousef
• Format: Article
• Language: English
• Subjects: Bacterial pneumonia; Cystic fibrosis; Genes; Genetic aspects; Genetic variation; Health aspects; Identification and classification; Medical research; Medicine, Experimental; Pneumonia
• ISSN: 0379-5284; 1658-3175
• DOI: 10.15537/smj.2023.44.10.20230290

Objectives: To investigate the geographic distribution of common cystic fibrosis (CF) variants in the western and southern regions of Saudi Arabia. Methods: A 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. Results: We 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.l4l8delG (10.2%), c.579+1G>T (8.8%), c.2988+1G>A (8.8%), c.3419 T>A (7.2%), and c.4l24A>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. Conclusion: This 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. Keywords: cystic fibrosis, CFTR, gene variants [phrase omitted]