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. 1996 Jan;33(1):73–76. doi: 10.1136/jmg.33.1.73

Clinical features of cystic fibrosis patients with rare genotypes.

G Castaldo 1, E Rippa 1, V Raia 1, D Salvatore 1, C Massa 1, G de Ritis 1, F Salvatore 1
PMCID: PMC1051817  PMID: 8825054

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 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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Selected References

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