Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

Background: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups.

Methods: We characterized the mutations in the CFTR gene by single-strand conformation polymorphism followed by sequencing in CF patients.

Results: Twelve mutations were found in 79/225 (35.1%) patients. The most frequent mutations were F508 deletion (31.1%), p.R1162× (2.2%), p.M1T (0.8%), and S559N (0.8%). Five novel severe mutations (p.R80N11fs*11, p.R75G, p.Y577×, p.Y808Yfs*10, and p.I331×) and three reported mutations (p.C343×, p.Ile1000×, p.M469V) were detected.

Conclusion: The protocol for identification of mutations in cases of CF in developing countries would have to include a different set of mutations than those reported from western countries.