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.
Clinical features of cystic fibrosis patients bearing rare genotypes / Castaldo, Giuseppe; Rippa, E.; Raia, Valeria; Salvatore, D.; Massa, C.; DE RITIS, G.; Salvatore, F.. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 33:1(1996), pp. 73-76. [10.1136/jmg.33.1.73]
Clinical features of cystic fibrosis patients bearing rare genotypes.
CASTALDO, GIUSEPPE;RAIA, VALERIA;
1996
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
