Mutations in the beta-subunit of the epithelial Na super(+) channel in patients with a cystic fibrosis-like syndrome

Cystic fibrosis (CF) is an autosomal recessive disorder of Cl super(-) and Na super(+) transport. The vast majority of CF patients have deleterious mutations in an epithelial Cl super(-) channel called the CF transmembrane conductance regulator (CFTR). In contrast, defects in the epithelial Na super...

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Published inHuman molecular genetics Vol. 14; no. 22; pp. 3493 - 3498
Main Authors Sheridan, Molly B, Fong, Peying, Groman, Joshua D, Conrad, Carol, Flume, Patrick, Diaz, Ruben, Harris, Christopher, Knowles, Michael, Cutting, Garry R
Format Journal Article
LanguageEnglish
Published 01.11.2005
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Summary:Cystic fibrosis (CF) is an autosomal recessive disorder of Cl super(-) and Na super(+) transport. The vast majority of CF patients have deleterious mutations in an epithelial Cl super(-) channel called the CF transmembrane conductance regulator (CFTR). In contrast, defects in the epithelial Na super(+) channel (SCNN1) have been associated with phenotypes dominated by renal disease (systemic pseudohypoaldosteronism type I and Liddle syndrome). We report two non-classic CF patients without CFTR mutations who have novel deleterious mutations in the beta -subunits of SCNN1 in the absence of overt renal disease.
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ISSN:0964-6906