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

Molly B. Sheridan, Peying Fong, Joshua D. Groman, Carol Conrad, Patrick Flume, Ruben Diaz, Christopher Harris, Michael Knowles, Garry R. Cutting

Research output: Contribution to journalArticle

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder of Cl- and Na+ transport. The vast majority of CF patients have deleterious mutations in an epithelial Cl- channel called the CF transmembrane conductance regulator (CFTR). In contrast, defects in the epithelial Na+ 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 β-subunits of SCNN1 in the absence of overt renal disease.

Original languageEnglish (US)
Pages (from-to)3493-3498
Number of pages6
JournalHuman molecular genetics
Volume14
Issue number22
DOIs
StatePublished - Nov 15 2005

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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