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 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(21 kb), 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%: W 1 282X (c.3 8 4 6 G > A ), N 1303K (c.3 9 0 9 C > G ), CFTRdele2,3(21 kb) (c.54-5 940_273 + 10250del21kb) and 2184insA (c.2052_2053insA). In addition, four mutations (G 542X, Y1 092X , 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.

Keywords

• cystic fibrosis
• mutational spectrum
• newborn screening