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Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form of CFTR dysfunction
Author(s) -
Salvatore Donatello,
Tomaiuolo Rossella,
Vanacore Borghina,
Elce Ausilia,
Castaldo Giuseppe,
Salvatore Francesco
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30518
Subject(s) - cystic fibrosis , cystic fibrosis transmembrane conductance regulator , asymptomatic , sweat , ivacaftor , mutation , phenotype , genotype , chloride channel , gene , chemistry , regulator , medicine , biology , genetics , biochemistry
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. © 2005 Wiley‐Liss, Inc.