title: Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.
abstract: OBJECTIVE
  To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF).
  
  
  METHODS
  This was a cross-sectional study involving adolescents and adults aged > 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics.
  
  
  RESULTS
  We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S.
  
  
  CONCLUSIONS
  The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.
authors.affiliation: University of Passo Fundo, Passo Fundo, Brazil. dalmaso@upf.br
authors.forename: Vinícius Buaes
authors.initials: VB
authors.lastname: Dal'Maso
authors.forename: Lucas
authors.initials: L
authors.lastname: Mallmann
authors.forename: Marina
authors.initials: M
authors.lastname: Siebert
authors.forename: Laura
authors.initials: L
authors.lastname: Simon
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.forename: Paulo de Tarso Roth
authors.initials: Pde T
authors.lastname: Dalcin
mesh_terms: D000293:Adolescent; D000328:Adult; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000145:classification / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013542:Sweat / Q000737:chemistry
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator