Balkan Journal of Medical Genetics

THE SPECTRUM AND FREQUENCY OF CYSTIC FIBROSIS MUTATIONS IN ALBANIAN PATIENTS
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E
*Corresponding Author: Ass. Prof. Irena Kasmi, Pediatric Clinic, Pediatric Department, University Hospital Center “Mother Teresa”, Tirana, Albania. Address: Street Dibra 372, Tirana, Albania. Tel: + 355 67 2066175, E-mail: irenakasmi@hotmail.com
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REFERENCES

1. Sharma N, et al. Defining the disease liability of vari- ants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160-7. 2. Guo J, Garratt A, Hill A. Worldwide rates of diag- nosis and effective treatment for cystic fibrosis. J Cyst Fibros. 2022 May;21(3):456-462. doi: 10.1016/j. jcf.2022.01.009. Epub 2022 Feb 4. PMID: 35125294 3. Bell SC, DeBoeck K, D AmaralM. New Pharmacolog- ical Approaches for Cystic Fibrosis: Promises, Prog- ress, Pitfalls. Pharmacol Ther. 2015 Jan; 145:19-34 4. The molecular genetic epidemiology of cystic fi- brosis. Human Genetics Program, Chronic Diseases and Health Promotion, World Health Organization: Report of a joint meeting of WHO/ECFTN/ICF(M) A/ECFS; 2002. 5. O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009 May 30; 373(9678):1891-904. 6. www.ecfs.eu/ecfspr 7. Institute of Statistics Albania www.instat.gov.al 8. CFTR2 31 August 2018. www.cftr2.org/mutation list 9. European Cystic fibrosis society. Patient Registry. At-A-Glance report 2016 10. European Cystic fibrosis society. Patient Registry. At-A-Glance report 2021 11. Bobadilla JL1, Macek M Jr, Fine JP, Farrell PM. Cys- tic fibrosis: a worldwide analysis of CFTR mutations- -correlation with incidence data and application to screening. Hum Mutat. 2002 Jun; 19(6):575-606. 12. https://www.registroitalianofibrosicistica.it/docu- menti/servizi/rifc_at_a_glance_2021.pdf 13. Terzic M, Jakimovska M, Fustik S, Jakovska T, Su- karova-Stefanovska E, Plaseska-Karanfilska D. Cys- tic fibrosis mutation spectrum in North Macedonia: A step toward personalized therapy. Balkan Journal of Medical Genetics. 2019 Aug 28;22(1):35-40. 14. Radivojevic D, Djurisic M, Lalic T, Guc-Scekic M, Savic J, Minic P. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. Genet Test. 2004;8(3):276–280. et al. 15. Fustik S, Plaseska Karanfilska D, Terzikj M, Spirevs- ka L, Stamatova A. Spectrum of CFTR mutations in Republic of North Macedonia European Respiratory Journal 2020 56: 2768; DOI: 10.1183/13993003.con- gress-2020.2768, 16. T. Dörk, M. Macek Jr., F. Mekus, B. Tümm- ler, J. Tzountzouris, T. Casals, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East EuropeHum Ge- net, 106 (2000), pp. 259-268 17. Ikpa PT, Bijvelds MJ, De Jonge HR. Cystic fibrosis: toward personalized therapies. Int J Biochem Cell Biol 2014; 52:192–200 18. Rubin JL1, O’Callaghan L2, Pelligra C3, Konstan MW4, Ward A3, Ishak JK5, Chandler C3, Liou TG6. Modeling long-term health outcomes of patients with cystic fibrosis homozygous for F508del-CFTR treated with lumacaftor/ivacaftor. TherAdvRespir Dis. 2019 Jan-Dec; 13:175 19. Ponzano S, Nigrelli G, Fregonese L, Eichler I, Ber- tozzi F, Bandiera T, Galietta LJV3, Papaluca M1. A European regulatory perspective on cystic fibrosis: current treatments, trends in drug development and translational challenges for CFTR modulators. Eur- Respir Rev. 2018 Apr 13; 27(148).

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