oa First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

References

1. Elborn JS. Cystic fibrosis. Lancet. 2016; 388:(10059):2519–31.
   [Google Scholar]
2. De Boeck K. Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatr. 2020; 109:(5):893–9.
   [Google Scholar]
3. Cystic Fibrosis Registry Reports – United States [internet]. [Cited 2020 Jan 11]. Available from: http://www.cysticfibrosisdata.org/ReportsUS.html .
4. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989; 245:(4922):1073–80.
   [Google Scholar]
5. Stephenson AL, Sykes J, Stanojevic S, Quon BS, Marshall BC, Petren K, et al. Survival comparison of patients with cystic fibrosis in Canada and the United States: A Population-Based Cohort Study. Ann Intern Med. 2017; 166:(8):537–46.
   [Google Scholar]
6. Spoonhower KA, Davis PB, . Epidemiology of cystic fibrosis. Clin Chest Med. 2016; 37:(1):1–8.
   [Google Scholar]
7. Cuppens H, Boulyjenkov V, Cassiman J, Cutting G, Dodge J, Des Georges M, . et al.The molecular genetic epidemiology of cystic fibrosis: Report of a joint meeting of WHO/ECFTN/ICF (M) A/ECFS; 2004.
8. Al-Sadeq D, Abunada T, Dalloul R, Fahad S, Taleb S, Aljassim K, et al. Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review. Respirology. 2019; 24:(2):127–36.
   [Google Scholar]
9. Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V). J Trop Pediatr. 2001; 47:(2):110–2.
   [Google Scholar]
10. Gullo L, Graziano L, Babbini S, Battistini A, Lazzari R, Pezzilli R, . Faecal elastase 1 in children with cystic fibrosis. Eur J Pediatr. 1997; 156:(10):770–2.
    [Google Scholar]
11. Pallin M. Cystic fibrosis vigilance in Arab countries: The role of genetic epidemiology. Respirology. 2019; 24:(2):93–4.
    [Google Scholar]
12. Banjar H, Angyalosi G, . The road for survival improvement of cystic fibrosis patients in Arab countries. Int J Pediatr Adolesc Med. 2015; 2:(2):47–58.
    [Google Scholar]
13. Hammoudeh S, Gadelhak W, AbdulWahab A, Al-Langawi M, Janahi IA. Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions. Multidiscip Respir Med. 2019 Oct 1; 14:29.
    [Google Scholar]
14. Farra C, Menassa R, Awwad J, et al. Mutational spectrum of cystic fibrosis in the Lebanese population. J Cyst Fibros. 2010; 9:(6):406–10.
    [Google Scholar]
15. Al-Abadi B, Al-Hiary M, Khasawneh R, et al. Cystic fibrosis gene mutation frequency among a group of suspected children in King Hussein Medical Center. Med Arch. 2019; 73:(2):118–20.
    [Google Scholar]
16. Jarjour RA, Al-Berrawi S, Ammar S, Majdalawi R. Spectrum of cystic fibrosis mutations in Syrian patients. Minerva Pediatr. 2018; 70:(2):159–64.
    [Google Scholar]
17. El-Falaki MM, Shahin WA, El-Basha NR, Ali AA, Mehaney DA, El-Attar MM. Profile of cystic fibrosis in a single referral center in Egypt. J Adv Res. 2014; 5:(5):563–68.
    [Google Scholar]
18. Boussetta K, Khalsi F, Bahri Y, Belhadj I, Tinsa F, Messaoud TB, et al. Cystic fibrosis in Tunisian children: a review of 32 children. Afr Health Sci. 2018; 18:(3):664–70.
    [Google Scholar]
19. Sediki FZ, Radoui A, Cabet F, Zemani-Fodil F, Saidi-Mehtar N, Boudjema A. Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population. Ann Biol Clin. 2014; 72:(5):549–54.
    [Google Scholar]
20. Banjar HH, Tuleimat L, El Seoudi AAA, Mogarri I, Alhaider S, Nizami IY, et al. Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia. Ann Saudi Med. 2020; 40:(1):15–24.
    [Google Scholar]
21. Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr. 2002; 48:(6):348–50.
    [Google Scholar]
22. Frossard PM, Girodon E, Dawson KP, Ghanem N, Plassa F, Lestringant GG, et al. Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no.133. Online. Hum Mutat. 1998; 11:(5):412–3.
    [Google Scholar]
23. Frossard PM, Dawson KP, Jayaram Das S, Alexander P, Girodon E, Goossens M. Identification of cystic fibrosis mutations in Oman. Clin Genet. 2000; 57:(3): 235–6.
    [Google Scholar]
24. Obeid T, Tadmouri GO, . Initial results of a pilot Arab human variome project. In: Tadmouri GO, Taleb Al Ali M, Al Khaja N, eds. Genetic Disorders in the Arab World: Qatar. Dubai, United Arab Emirates: Centre for Arab Genomic Studies; 2012.
    [Google Scholar]
25. Saleheen D, Frossard P, . The cradle of the deltaF508 mutation. J Ayub Med Coll Abbottabad. 2008; 20:(4):157–60.
    [Google Scholar]