1887
Volume 2021, Issue 2
  • ISSN: 0253-8253
  • E-ISSN: 2227-0426

ملخص

We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.

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References

  1. Elborn JS. Cystic fibrosis. Lancet. 2016; 388:(10059):2519–31.
    [Google الباحث العلمي]
  2. De Boeck K. Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatr. 2020; 109:(5):893–9.
    [Google الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  6. Spoonhower KA, Davis PB, . Epidemiology of cystic fibrosis. Clin Chest Med. 2016; 37:(1):1–8.
    [Google الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  11. Pallin M. Cystic fibrosis vigilance in Arab countries: The role of genetic epidemiology. Respirology. 2019; 24:(2):93–4.
    [Google الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  21. Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr. 2002; 48:(6):348–50.
    [Google الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  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 الباحث العلمي]
  25. Saleheen D, Frossard P, . The cradle of the deltaF508 mutation. J Ayub Med Coll Abbottabad. 2008; 20:(4):157–60.
    [Google الباحث العلمي]
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  • نوع المستند: Case Report
الموضوعات الرئيسية cystic fibrosisp. Phe508del mutation and Qatar

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