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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome HUMAN MOLECULAR GENETICS Sheridan, M. B., Fong, P. Y., Groman, J. D., Conrad, C., Flume, P., Diaz, R., Harris, C., Knowles, M., Cutting, G. R. 2005; 14 (22): 3493-3498

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

View details for DOI 10.1093/hmg/ddi374

View details for Web of Science ID 000233216600015

View details for PubMedID 16207733