Document Detail

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.
MedLine Citation:
PMID:  7954808     Owner:  NLM     Status:  MEDLINE    
Liddle's syndrome (pseudoaldosteronism) is an autosomal dominant form of human hypertension characterized by a constellation of findings suggesting constitutive activation of the amiloride-sensitive distal renal epithelial sodium channel. We demonstrate complete linkage of the gene encoding the beta subunit of the epithelial sodium channel to Liddle's syndrome in Liddle's original kindred. Analysis of this gene reveals a premature stop codon that truncates the cytoplasmic carboxyl terminus of the encoded protein in affected subjects. Analysis of subjects with Liddle's syndrome from four additional kindreds demonstrates either premature termination or frameshift mutations in this same carboxy-terminal domain in all four. These findings demonstrate that Liddle's syndrome is caused by mutations in the beta subunit of the epithelial sodium channel and have implications for the regulation of this epithelial ion channel as well as blood pressure homeostasis.
R A Shimkets; D G Warnock; C M Bositis; C Nelson-Williams; J H Hansson; M Schambelan; J R Gill; S Ulick; R V Milora; J W Findling
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Cell     Volume:  79     ISSN:  0092-8674     ISO Abbreviation:  Cell     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1994-12-20     Completed Date:  1994-12-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0413066     Medline TA:  Cell     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  407-14     Citation Subset:  IM    
Howard Hughes Medical Institute, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06510.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 16*
Codon, Terminator / genetics
Genetic Markers
Hyperaldosteronism / genetics*
Hypertension / genetics*
Linkage (Genetics)
Molecular Sequence Data
Reading Frames / genetics
Recombination, Genetic
Sodium Channels / genetics*
Reg. No./Substance:
0/Codon, Terminator; 0/Genetic Markers; 0/Sodium Channels

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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