PT  - JOURNAL ARTICLE
AU  - Almaghamsi, Talal
AU  - Attiyah, Wejdan Ba
AU  - Bahasan, Mona
AU  - Alotaibi, Badi A.
AU  - AlAhmadi, Shahad F.
AU  - Hanbazazh, Mehenaz
AU  - Zakariyah, Abeer
AU  - Saleem, Rimah A.
AU  - AlAnezi, Munaifah K.
AU  - Hawsawi, Yousef
TI  - Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants
AID  - 10.15537/smj.2023.44.10.20230290
DP  - 2023 Oct 01
TA  - Saudi Medical Journal
PG  - 987--994
VI  - 44
IP  - 10
4099  - http://smj.org.sa/content/44/10/987.short
4100  - http://smj.org.sa/content/44/10/987.full
SO  - Saudi Med J2023 Oct 01; 44
AB  - 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.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.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.