title: Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.
abstract: We present a phenotype-genotype correlation analysis in 12 patients with cystic fibrosis (CF) carrying the mutation R334W in the CFTR gene. The clinical data obtained for this group were compared with the clinical data of deltaF508/deltaF508 patients. Current age and age at diagnosis were significantly higher in the R334W mutation group (p=0.028 and p=0.0001). We found a lower rate of Pseudomonas aeruginosa colonisation in patients carrying the R334W mutation, although the difference was not found to be statistically significant. However, we found a statistically significant higher age of onset of Pseudomonas aeruginosa colonisation (p=0.0036) in the group of patients with the R334W mutation. Thirty three percent of R334W patients were pancreatic insufficient, significantly lower than the deltaF508/deltaF508 patients (p=0.004). We also found that the weight expressed as a percentage of ideal weight for height was significantly higher in patients with the R334W mutation (p=0.0028).
authors.affiliation: Unidad de Genética Médica, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: M
authors.initials: M
authors.lastname: Gili
authors.forename: J
authors.initials: J
authors.lastname: Dapena
authors.forename: I
authors.initials: I
authors.lastname: Alfageme
authors.forename: F
authors.initials: F
authors.lastname: Reina
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011552:Pseudomonas Infections / Q000150:complications
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator