title: Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction.
abstract: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause typical cystic fibrosis (CF) and several milder phenotypes. We report on two asymptomatic sisters who had isolated increased sweat chloride concentrations, and in whom systematic scanning of the whole coding region of the CFTR gene revealed the F508del/S1455X genotype.
authors.affiliation: Pediatric Division, Cystic Fibrosis Center, San Carlo Hospital, I-85100 Potenza, Italy. saverdon@tiscali.it
authors.forename: Donatello
authors.initials: D
authors.lastname: Salvatore
authors.forename: Rossella
authors.initials: R
authors.lastname: Tomaiuolo
authors.forename: Borghina
authors.initials: B
authors.lastname: Vanacore
authors.forename: Ausilia
authors.initials: A
authors.lastname: Elce
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D000328:Adult; D002648:Child; D002712:Chlorides / Q000378:metabolism*; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation; D013542:Sweat / Q000737:chemistry*
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D018389:Codon, Nonsense; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator