RT Journal Article
SR Electronic
T1 Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 987
OP 994
DO 10.15537/smj.2023.44.10.20230290
VO 44
IS 10
A1 Almaghamsi, Talal
A1 Attiyah, Wejdan Ba
A1 Bahasan, Mona
A1 Alotaibi, Badi A.
A1 AlAhmadi, Shahad F.
A1 Hanbazazh, Mehenaz
A1 Zakariyah, Abeer
A1 Saleem, Rimah A.
A1 AlAnezi, Munaifah K.
A1 Hawsawi, Yousef
YR 2023
UL http://smj.org.sa/content/44/10/987.abstract
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.