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

Molly 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

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Epithelial Sodium Channels
Cystic Fibrosis
Mutation
Liddle Syndrome
Pseudohypoaldosteronism
Kidney
Cystic Fibrosis Transmembrane Conductance Regulator
Phenotype

ASJC Scopus subject areas

  • Genetics

Cite this

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. / Sheridan, Molly; Fong, Peying; Groman, Joshua D.; Conrad, Carol; Flume, Patrick; Diaz, Ruben; Harris, Christopher; Knowles, Michael; Cutting, Garry R.

In: Human Molecular Genetics, Vol. 14, No. 22, 15.11.2005, p. 3493-3498.

Research output: Contribution to journalArticle

Sheridan, Molly ; Fong, Peying ; Groman, Joshua D. ; Conrad, Carol ; Flume, Patrick ; Diaz, Ruben ; Harris, Christopher ; Knowles, Michael ; Cutting, Garry R. / Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. In: Human Molecular Genetics. 2005 ; Vol. 14, No. 22. pp. 3493-3498.
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