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Human Molecular Genetics Advance Access published online on October 5, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi374
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© The Author 2005. Published by Oxford University Press. All rights reserved
Received August 25, 2005
Revised September 30, 2005
Accepted September 30, 2005

Article

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

Molly B. Sheridan 1, Peying Fong 2, Joshua D. Groman 1, Carol Conrad 3, Patrick Flume 4, Ruben Diaz 5, Christopher Harris 6, Michael Knowles 7, and Garry R. Cutting 8*

1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA
2 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA
3 Stanford University, Palo Alto, California, 94304,USA
4 Medical University of South Carolina, Charleston, South Carolina, 29425, USA
5 University of Nevada School of Medicine, Las Vegas, Nevada, 89107, USA
6 Vanderbilt University, Nashville, Tennessee, 37232, USA
7 University of North Carolina, Chapel Hill, North Carolina, 27599, USA
8 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA; BRB 559; 733 North Broadway, Johns Hopkins Medical Institutions, Baltimore, MD 21204

* To whom correspondence should be addressed.
Garry R. Cutting, E-mail: gcutting{at}jhmi.edu


  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). On the other hand, 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 {beta} subunits of SCNN1 in the absence of overt renal disease.


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