RGD Reference Report - Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. - Rat Genome Database

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Authors: Chang, SS  Grunder, S  Hanukoglu, A  Rosler, A  Mathew, PM  Hanukoglu, I  Schild, L  Lu, Y  Shimkets, RA  Nelson-Williams, C  Rossier, BC  Lifton, RP 
Citation: Chang SS, etal., Nat Genet. 1996 Mar;12(3):248-53.
RGD ID: 1624117
Pubmed: PMID:8589714   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0396-248   (Journal Full-text)

Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic acidosis, and unresponsiveness to mineralocorticoid hormones. Investigation of affected offspring of consanguineous union reveals mutations in either the alpha or beta subunits of the amiloride-sensitive epithelial sodium channel in five kindreds. These mutations are homozygous in affected subjects, co-segregate with the disease, and introduce frameshift, premature termination or missense mutations that result in loss of channel activity. These findings demonstrate the molecular basis and explain the pathophysiology of this disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Objects Annotated

Genes (Rattus norvegicus)
Scnn1a  (sodium channel epithelial 1 subunit alpha)
Scnn1b  (sodium channel epithelial 1 subunit beta)

Genes (Mus musculus)
Scnn1a  (sodium channel, nonvoltage-gated 1 alpha)
Scnn1b  (sodium channel, nonvoltage-gated 1 beta)

Genes (Homo sapiens)
SCNN1A  (sodium channel epithelial 1 subunit alpha)
SCNN1B  (sodium channel epithelial 1 subunit beta)


Additional Information