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Clinical features of cystic fibrosis patients with rare genotypes.
  1. G Castaldo,
  2. E Rippa,
  3. V Raia,
  4. D Salvatore,
  5. C Massa,
  6. G de Ritis,
  7. F Salvatore
  1. Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli, Federico II, Italy.


    We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the 2183 AA-->G mutation or for the I148T mutation, in both instances with the delta F508 mutation; and (2) a patient homozygous for the early nonsense R553X mutation who showed only a moderately severe form of cystic fibrosis. Our results confirm that environmental or genetic factors unrelated to the CF disease contribute significantly to the development of the phenotype.

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