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Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

✍ Scribed by Castaldo, Giuseppe; Rippa, Emilia; Salvatore, Donatello; Sibillo, Raffaella; Raia, Valeria; de Ritis, Giorgio; Salvatore, Francesco

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 143 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970317)69:2<155::aid-ajmg7>3.0.co;2-o

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✦ Synopsis

The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected. Am.

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We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P < 0.01), as compared to the aF508/aF508 group. Poor values for lung ra