Identification and frequencies of cystic fibrosis mutations in central Argentina

• A European panel of 71 CFTR mutations is not optimal for first-line diagnosis in the mixed population of central Argentina.
• Complete screening of the gene lead to a detection rate of 91%.
• Two new likely disease-causing mutations were identified.
• A new first line panel of 21 CFTR mutations with a sensitivity of 84% is proposed for routine use in central Argentina.

BackgroundThe Argentinian population is mainly of Caucasian origin, with a small contingent of indigenous descent. The aim of this study is to test the hypothesis that a panel of mutations designed for European countries is not optimal as a first-line molecular diagnosis for routine use in this country of mixed European origin.MethodsPhenotype analyses combined with a European screening panel of 71 mutations followed by Sanger sequencing and large rearrangement study, were used to characterize the identification and distribution of CFTR mutations in the Santa Fe province of Argentina.ResultsClinical review of 121 subjects suspected of CF during childhood led to selection of 83 unrelated patients. Thirty four different mutations, including two new ones, c.2554dupT and p.Leu49Pro, were detected. The total sensitivity was 91% (n = 151/166 alleles).ConclusionsFrequencies of CFTR mutations in Argentinian populations differ from those of their European ancestry. A new first line panel of 21 CFTR mutations with a sensitivity of 84% is proposed for routine use in central Argentina.