title: Clinical features of cystic fibrosis patients with rare genotypes.
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.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli, Federico II, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Castaldo
authors.forename: E
authors.initials: E
authors.lastname: Rippa
authors.forename: V
authors.initials: V
authors.lastname: Raia
authors.forename: D
authors.initials: D
authors.lastname: Salvatore
authors.forename: C
authors.initials: C
authors.lastname: Massa
authors.forename: G
authors.initials: G
authors.lastname: de Ritis
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation