CLINICAL-FEATURES OF CYSTIC-FIBROSIS PATIENTS WITH RARE GENOTYPES

We describe the clinical features of seven cystic fibrosis patients fr om southern Italy who bear rare genotypes: (I) a patient homozygous fo r the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozyg otes either for the 2183 AA-->G mutation or for the I148T mutation, in both instances with the Delta F508 mutation; and (2) a patient homozy gous for the early nonsense R553X mutation who showed only a moderatel y severe form of cystic fibrosis. Our results confirm that environment al or genetic factors unrelated to the CF disease contribute significa ntly to the development of the phenotype.