Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction.
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.
Salvatore
Donatello
D
Pediatric Division, Cystic Fibrosis Center, San Carlo Hospital, I-85100 Potenza, Italy. saverdon@tiscali.it
Tomaiuolo
Rossella
R
Vanacore
Borghina
B
Elce
Ausilia
A
Castaldo
Giuseppe
G
Salvatore
Francesco
F
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*
C505032:CFTR protein, human; D002712:Chlorides; D018389:Codon, Nonsense; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator