Balkan journal of medical genetics : BJMG · 2024
The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.
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Kasmi I, Kasmi G, Basholli B, Sefa H S, Vevecka E
Аннотация
BACKGROUND: 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.
METHODS: 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 "Mother Theresa" (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.
RESULTS: The most frequent mutation is F508del (83.19%), followed by 621+1G>T (2.45%). Other mutations identified in decrease order are E822X, G85E, G542X, R1066C, R1070Q, R1158X, G1349D, N1303K, S466X, 1811+1G->C, E831X, CFTRdele2,3(21kb).
CONCLUSIONS: 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.The Albanian population would benefit from Cystic Fibrosis neonatal screening, since outcomes can be improved through early diagnosis.
METHODS: 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 "Mother Theresa" (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.
RESULTS: The most frequent mutation is F508del (83.19%), followed by 621+1G>T (2.45%). Other mutations identified in decrease order are E822X, G85E, G542X, R1066C, R1070Q, R1158X, G1349D, N1303K, S466X, 1811+1G->C, E831X, CFTRdele2,3(21kb).
CONCLUSIONS: 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.The Albanian population would benefit from Cystic Fibrosis neonatal screening, since outcomes can be improved through early diagnosis.