SCREENING OF CFTR GENETIC VARIANTS IN CYSTIC FIBROSIS BY HIGH-THROUGH SEQUENCING TECHNOLOGY
Cystic fibrosis; clinical manifestations; mutations; CFTR.
Cystic fibrosis (CF) is a serious, multisystem genetic disease caused by mutations in the gene that encodes the cystic fibrosis conductance regulatory protein (CFTR). Although it has been described more than 2.000 CFTR mutations, in heterogeneous populations, such as the Brazilian one, molecular diagnosis is difficult by the lack of knowledge of the panel of mutations specific to the population. Thus, the present study aims to describe the clinical and molecular profiles of patients with CF at a referral center in Rio Grande do Norte, based on the genetic results obtained by high-throughput sequencing, and to correlate them with the correct diagnosis and phenotypes of these patients.