title: Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease.
abstract: Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a hidden disease, which is often asymptomatic at early ages. We report on a case of a 15 years old boy, in whom the only clinical signs of CF were chronic hypertransaminasemia and hyperbilirubinemia, and in whom it was demonstrated the presence of the mutations F508del associated with TG11-9T-470M in one allele and TG12-5T-470V in the other allele. Although a clear genotype-phenotype correlation for liver disease is still missing for CF patients, it is possible to state that this isolated clinical presentation could represent an unusual phenotype of CF, related to a complex genotype characterized by a severe mutation and one (or more) polymorphism.
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Andrea D
authors.initials: AD
authors.lastname: Praticò
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Elena R
authors.initials: ER
authors.lastname: Praticò
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Novella
authors.initials: N
authors.lastname: Rotolo
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Salafia
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Franzonello
authors.affiliation: Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Leonardi
mesh_terms: D000293:Adolescent; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator