%0 Journal Article %A Luisa Pereira %A Pilar Azevedo %A Jose Cavaco %A Miguel Felix %A Fernanda Gamboa %A Adelina Amorim %A Luisa Vaz %A Herculano Rocha %A Juan Goncalves %A Cristina Freitas %A Celeste Barreto %T Genetic characterization of cystic fibrosis patients in Portugal %D 2013 %J European Respiratory Journal %P P1191 %V 42 %N Suppl 57 %X Objective: The aim of the study is to estimate the frequency of p.F508del and of the more common mutations in population of patients with cystic fibrosis (CF) followed at CF centers in Portugal, before the implementation of a pilot program of neonatal screening (NBS).Method: collection of data from the data bases of all the cystic fibrosis centers in Portugal. Patients in follow-up during 2012 were included, age was considered as for the 31st December.Results: 298 patients (pts) were identified: 140 (47%) males, 158 (53%) females, 5 with less than 1 year (y), 8 aged 1-2 y, 24 aged 3-5 y, 63 aged 6-10 y, 76 aged 11-17 y, 80 aged 18-29 y, 28 aged 30-39 y and 14 older than 40 y. p.F508del mutation is the commonest one: 143 pts (48%) homozygous and 92(30.8%) heterozygous.The 10 more common mutations found are F508del (63.4% of the alleles), R334W (5%), A561E (2.9%), G542X (2.7%), N1303K (2.2%), G85E (1.8%), R1066C and 3272/26A-G (1.3% each), Q1100P (0.8%) and P2055 (0.7%). Ten mutations have been found in more than 1 or 2 pts.Comments: To ensure a effective NBS program the panel of CF mutations analysis should be designed in order to include the more common mutations found in our population. %U https://erj.ersjournals.com/content/erj/42/Suppl_57/P1191.full.pdf