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Human Molecular Genetics Advance Access originally published online on October 5, 2005
Human Molecular Genetics 2005 14(22):3493-3498; doi:10.1093/hmg/ddi374
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Molly B. Sheridan1, Peying Fong2, Joshua D. Groman1, Carol Conrad3, Patrick Flume4, Ruben Diaz5, Christopher Harris6, Michael Knowles7 and Garry R. Cutting1,*

1McKusick–Nathans Institute of Genetic Medicine, 2Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA, 3Stanford University, Palo Alto, CA 94304, USA, 4Medical University of South Carolina, Charleston, SC 29425, USA, 5University of Nevada School of Medicine, Las Vegas, NV 89107, USA, 6Vanderbilt University, Nashville, TN 37232, USA and 7University of North Carolina, Chapel Hill, NC 27599, USA

* To whom correspondence should be addressed at: Johns Hopkins Medical Institutions, BRB 559; 733 North Broadway, Baltimore, MD 21205, USA. Tel: +1 4109551773; Fax +1 4106140213; Email: gcutting{at}jhmi.edu

Received August 25, 2005; Accepted September 30, 2005

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 ß-subunits of SCNN1 in the absence of overt renal disease.


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