Background: In this study the authors present an update to the CFTR mutation profile in Hungary, utilizing data from a selected cohort of 45 cystic fibrosis (CF) patients from different regions of the country. Methods: Depending on the preceding analysis, four different mutation detection methods were used. A commercial assay targeting the most common CF-causing mutations was performed as the first test followed by an allele specific PCR for CFTRdele2,3(21kb), Sanger sequencing and MLPA analysis of the coding region of the CFTR gene. Results: In our recent study 27 different mutations were detected, including 2 novel ones (c.1037_1038insA and c.1394C>T). Besides F508del (c.1521_1523delCTT), the following mutations were found at a frequency of ≥ 4.0%: W1282X (c.3846G>A), N1303K (c.3909C>G), CFTRdele2,3(21kb) (c.54-5940_273+10250del21kb) and 2184insA (c.2052_2053insA). In addition, four mutations (G542X, Y1092X, 621+1G>T, and 2143delT) were found in more than one allele. Conclusions: The updated database of Hungarian mutations not only enables to increase the efficiency of the existing diagnostic approach, but also provides a further refined basis for the introduction of the molecular newborn screening (NBS) program in Hungary. Uvod: U ovoj studiji autori predstavljaju nove podatke dobijene izučavanjem profila mutacije CFTR u Ma|arskoj uz pomoć podataka izabrane grupe od 45 pacijenata sa cističnom fibrozom (CF) iz različitih krajeva zemlje. Metode: U zavisnosti od prethodne analize, kori{ćene su četiri različite metode za detekciju mutacija. Prvo je ra|en komercijalni test koji ciljano traga za najče{ćim mutacijama koje izazivaju CF, posle čega su primenjeni PCR za CFTRdele2,3(21 kb), Sanger sekvenciranje i MLPA analiza kodirajućeg regiona gena CFTR. Rezultati: U na{oj nedavnoj studiji otkriveno je 27 različitih mutacija, uključujući dve dotad nepoznate (c.1037_1038insA i c.1394C>T). Pored F508del (c.1521 _1523delCTT), prona|ene su sledeće mutacije sa učestalo{ću ≥ 4,0%: W1282X (c.3846G>A), N1303K (c.3909C >G), CFTRdele2,3(21kb) (c.54-5940_273+10250 del21kb) i 2184insA (c.2052_2053insA). Pored toga, četiri mutacije (G542X, Y1092X, 621+1G>T i 2143 delT) na|ene su u vi{e od jednog alela. Zaključak: Baza podataka o ma|arskim mutacijama dopunjena poslednjim informacijama ne samo da omogućava povećavanje efikasnosti postojećeg dijagnostičkog pristupa, već tako|e pruža dodatno usavr{en osnov za uvo|enje programa molekularnog skrininga novoro|enčadi (NBS) u Ma|arskoj.