Clinical features of cystic fibrosis patients with rare genotypes

G. Castaldo, E. Rippa, V. Raia, D. Salvatore, C. Massa, G. De Ritis, F. Salvatore

Research output: Contribution to journalArticle

Abstract

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 ΔF508 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.

Original languageEnglish
Pages (from-to)73-76
Number of pages4
JournalJournal of Medical Genetics
Volume33
Issue number1
Publication statusPublished - 1996

Keywords

  • 2183 AA→G mutation
  • Cystic fibrosis
  • I148T mutation
  • R553X mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Castaldo, G., Rippa, E., Raia, V., Salvatore, D., Massa, C., De Ritis, G., & Salvatore, F. (1996). Clinical features of cystic fibrosis patients with rare genotypes. Journal of Medical Genetics, 33(1), 73-76.