Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
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.
Sheridan
Molly B
MB
1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Fong
Peying
P
Groman
Joshua D
JD
Conrad
Carol
C
Flume
Patrick
P
Diaz
Ruben
R
Harris
Christopher
C
Knowles
Michael
M
Cutting
Garry R
GR
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D053503:Epithelial Sodium Channels; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA; D012964:Sodium / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
C505032:CFTR protein, human; D053503:Epithelial Sodium Channels; D012333:RNA, Messenger; C507045:SCNN1A protein, human; C507048:SCNN1B protein, human; D015222:Sodium Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012964:Sodium