GENOTYPE-PHENOTYPE RELATIONSHIP IN 12 PATIENTS CARRYING CYSTIC-FIBROSIS MUTATION R334W

We present a phenotype-genotype correlation analysis in 12 patients wi th cystic fibrosis (CF) carrying the mutation R334W in the CFTR gene. The clinical data obtained for this group were compared with the clini cal data of Delta F508/Delta F508 patients. Current age and age at dia gnosis were significantly higher in the R334W mutation group (p=0.028 and p=0.0001). We found a lower rate of Pseudomonas aeruginosa colonis ation in patients carrying the R334W mutation, although the difference was not found to be statistically significant. However, we found a st atistically significant higher age of onset of Pseudomonas aeruginosa colonisation (p=0.0036) in the group of patients with the R334W mutati on. Thirty three percent of R334W patients were pancreatic insufficien t, significantly lower than the Delta F508/Delta F508 patients (p=0.00 4). We also found that the weight expressed as a percentage of ideal w eight for height was significantly higher in patients with the R334W m utation (p=0.0028).