title: Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.
abstract: BACKGROUND
  In this study the authors present an update to theCFTRmutation 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 theCFTRgene.
  
  
  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.
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Gergely
authors.initials: G
authors.lastname: Ivády
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Katalin
authors.initials: K
authors.lastname: Koczok
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Laszlo
authors.initials: L
authors.lastname: Madar
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Eva
authors.initials: E
authors.lastname: Gombos
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Izabella
authors.initials: I
authors.lastname: Toth
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Klaudia
authors.initials: K
authors.lastname: Gyori
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: István
authors.initials: I
authors.lastname: Balogh
keywords: cystic fibrosis; mutational spectrum; newborn screening