{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:26:52Z","timestamp":1793424412403,"version":"4.5.0"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present a CFTR mutation analysis among the Albanian population and to identify rare variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>We identified CFTR mutations in a representative cohort of CF patients comprising of Albanian patients and some Kosovo patients followed up by the Department of Pediatrics at the University Hospital Center \u201cMother Theresa\u201d (UHCMT). Compiled clinical and genotypic data include 133 previously analyzed patients, of whom 116 have two identified mutations, 6 have only one known mutation, and 11 are unexamined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>The most frequent mutation is F508del (83.19%), followed by 621+1G&gt;T (2.45%). Other mutations identified in decrease order are E822X, G85E, G542X, R1066C, R1070Q, R1158X, G1349D, N1303K, S466X, 1811+1G-&gt;C, E831X, CFTRdele2,3(21kb).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>The data suggest that most of these patients can benefit from new modulatory therapies targeting CFTR mutations, translating to very hopeful prospects for these patients.<\/jats:p>\n                    <jats:p>The Albanian population would benefit from Cystic Fibrosis neonatal screening, since outcomes can be improved through early diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2478\/bjmg-2024-0004","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T02:30:57Z","timestamp":1725676257000},"page":"31-36","source":"Crossref","is-referenced-by-count":2,"title":["The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients"],"prefix":"10.2478","volume":"27","author":[{"given":"I","family":"Kasmi","sequence":"first","affiliation":[{"name":"University Hospital Center \u201cMother Teresa\u201d (UHCMT) , Pediatric Department , Tirana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Kasmi","sequence":"additional","affiliation":[{"name":"University of Medicine , Tirana (UMT), Laboratory Department"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Basholli","sequence":"additional","affiliation":[{"name":"University Hospital Center \u201cMother Teresa\u201d (UHCMT) , Pediatric Department , Tirana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HS","family":"Sefa","sequence":"additional","affiliation":[{"name":"Laboratory Department , Catholic Hospital \u201cOur Lady of Good Counsel\u201d , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Vevecka","sequence":"additional","affiliation":[{"name":"University Hospital Center \u201cMother Teresa\u201d (UHCMT) , Pediatric Department , Tirana"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,9,6]]},"reference":[{"key":"2026061919571864523_j_bjmg-2024-0004_ref_001","doi-asserted-by":"crossref","unstructured":"Sharma N, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160\u20137.","DOI":"10.1038\/ng.2745"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_002","doi-asserted-by":"crossref","unstructured":"Guo J, Garratt A, Hill A. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. J Cyst Fibros. 2022 May;21(3):456\u2013462. doi: 10.1016\/j.jcf.2022.01.009. Epub 2022 Feb 4. PMID: 35125294","DOI":"10.1016\/j.jcf.2022.01.009"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_003","doi-asserted-by":"crossref","unstructured":"Bell SC, DeBoeck K, D Amaral M. New Pharmacological Approaches for Cystic Fibrosis: Promises, Progress, Pitfalls. Pharmacol Ther. 2015 Jan; 145:19\u201334","DOI":"10.1016\/j.pharmthera.2014.06.005"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_004","unstructured":"The molecular genetic epidemiology of cystic fibrosis. Human Genetics Program, Chronic Diseases and Health Promotion, World Health Organization: Report of a joint meeting of WHO\/ECFTN\/ICF(M) A\/ECFS; 2002."},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_005","doi-asserted-by":"crossref","unstructured":"O\u2019Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009 May 30; 373(9678):1891\u2013904.","DOI":"10.1016\/S0140-6736(09)60327-5"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_006","unstructured":"www.ecfs.eu\/ecfspr"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_007","unstructured":"Institute of Statistics Albania www.instat.gov.al"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_008","unstructured":"CFTR2 31 August 2018. www.cftr2.org\/mutation list"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_009","unstructured":"European Cystic fibrosis society. Patient Registry. At-A-Glance report 2016"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_010","unstructured":"European Cystic fibrosis society. Patient Registry. At-A-Glance report 2021"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_011","doi-asserted-by":"crossref","unstructured":"Bobadilla JL1, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat. 2002 Jun; 19(6):575\u2013606.","DOI":"10.1002\/humu.10041"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_012","unstructured":"https:\/\/www.registroitalianofibrosicistica.it\/documenti\/servizi\/rifc_at_a_glance_2021.pdf"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_013","doi-asserted-by":"crossref","unstructured":"Terzic M, Jakimovska M, Fustik S, Jakovska T, Sukarova-Stefanovska E, Plaseska-Karanfilska D. Cystic fibrosis mutation spectrum in North Macedonia: A step toward personalized therapy. Balkan Journal of Medical Genetics. 2019 Aug 28;22(1):35\u201340.","DOI":"10.2478\/bjmg-2019-0009"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_014","doi-asserted-by":"crossref","unstructured":"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\u2013280. et al.","DOI":"10.1089\/gte.2004.8.276"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_015","doi-asserted-by":"crossref","unstructured":"Fustik S, Plaseska Karanfilska D, Terzikj M, Spirevska L, Stamatova A. Spectrum of CFTR mutations in Republic of North Macedonia European Respiratory Journal 2020 56: 2768; DOI: 10.1183\/13993003.congress-2020.2768,","DOI":"10.1183\/13993003.congress-2020.2768"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_016","doi-asserted-by":"crossref","unstructured":"T. D\u00f6rk, M. Macek Jr., F. Mekus, B. T\u00fcmmler, 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 Genet, 106 (2000), pp. 259\u2013268","DOI":"10.1007\/s004390000246"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_017","doi-asserted-by":"crossref","unstructured":"Ikpa PT, Bijvelds MJ, De Jonge HR. Cystic fibrosis: toward personalized therapies. Int J Biochem Cell Biol 2014; 52:192\u2013200","DOI":"10.1016\/j.biocel.2014.02.008"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_018","doi-asserted-by":"crossref","unstructured":"Rubin JL1, O\u2019Callaghan 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\u2013Dec; 13:175","DOI":"10.1177\/1753466618820186"},{"key":"2026061919571864523_j_bjmg-2024-0004_ref_019","doi-asserted-by":"crossref","unstructured":"Ponzano S, Nigrelli G, Fregonese L, Eichler I, Bertozzi 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).","DOI":"10.1183\/16000617.0124-2017"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2024-0004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T19:57:27Z","timestamp":1781899047000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2024-0004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,9,6]]},"published-print":{"date-parts":[[2024,6,1]]}},"alternative-id":["10.2478\/bjmg-2024-0004"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2024-0004","relation":{},"ISSN":["2199-5761"],"issn-type":[{"value":"2199-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,1]]}}}