RGD Reference Report - Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. - Rat Genome Database

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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

Authors: Shimkets, RA  Warnock, DG  Bositis, CM  Nelson-Williams, C  Hansson, JH  Schambelan, M  Gill JR, JR  Ulick, S  Milora, RV  Findling, JW 
Citation: Shimkets RA, etal., Cell. 1994 Nov 4;79(3):407-14.
RGD ID: 1624136
Pubmed: PMID:7954808   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Adrenal Insufficiency  IAGP 1624136Liddle syndrome more ...RGD 
Adrenal Insufficiency  ISOSCNN1B (Homo sapiens)1624136; 1624136Liddle syndrome more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Scnn1b  (sodium channel epithelial 1 subunit beta)

Genes (Mus musculus)
Scnn1b  (sodium channel, nonvoltage-gated 1 beta)

Genes (Homo sapiens)
SCNN1B  (sodium channel epithelial 1 subunit beta)


Additional Information