Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

@article{Geller1998MutationsIT,
  title={Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I},
  author={D. Geller and J. Rodr{\'i}guez-soriano and A. V. Boado and S. Schifter and M. Bayer and Sue S. Chang and R. Lifton},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={279-281}
}
Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist. An autosomal recessive form features severe disease with manifestations persisting into adulthood. This form is caused by loss-of-function mutations in genes encoding subunits of the amiloride-sensitive epithelial sodium channel (ENaC; refs 2,3 ). Autosomal dominant or sporadic… Expand
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism
TLDR
The absence of mutations in some kindreds and the role of precise phenotypic and biological examination of patients to allow for identification of other genes potentially involved in the disease are discussed. Expand
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
TLDR
A neonatal case of PHA1 with a NR3C2 gene mutation is reported, in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels, which is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea. Expand
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).
TLDR
Loss-of-function mutations of the MR gene located at 4q31.1, commonly are associated with the autosomal dominant form of PHA1, and Interestingly, neuropathy was found in two of five affected individuals. Expand
A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in the Renal Form of Pseudohypoaldosteronism Type 1
TLDR
The renal form of PHA1 in a Japanese family is reported, with a heterozygous nonsense mutation changing codon 861 Arg (CGA) to stop (TGA) in the index patient. Expand
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
TLDR
Results suggest that mineralocorticoid resistance in this Japanese family with a renal form of PHA1 is due to a missense mutation in the MR gene, the first case of the missense mutated MR gene in renal PHA 1. Expand
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
TLDR
Clinical and molecular findings of a Brazilian family with the renal form of PHA1 caused by a nonsense mutation (R947X) in the MR gene are presented and the mechanisms of aldosterone action and its effects are discussed. Expand
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
TLDR
The hypothesis that autosomal dominant or sporadic PHA1 is a genetically heterogeneous disease involving other, as yet unidentified, genes is confirmed. Expand
Pseudohypoaldosteronism Type 1 with a Novel Mutation in the NR3C2 Gene: A Case Report
Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype asExpand
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
TLDR
This study provides the first evidence that ENaC activity is critical for the maintenance of salt balance in the immature kidney of preterm babies, and identifies a novel functional domain in the extracellular loop of EN aC. Expand
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism
TLDR
It is demonstrated that MR mutations are extremely frequent in PHA1 patients classified according to aldosterone and potassium levels and given indications for accurate clinical and biological investigation. Expand
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TLDR
It is concluded that the mutations identified in 4 of these 5 patients with PHA are polymorphisms, which on their own have no apparent pathophysiological significance and are hypothesized that the defect causing PHA might be in a post-MR step of aldosterone action or in an unsuspected nonclassic receptor for this hormone. Expand
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
TLDR
Investigation of affected offspring of consanguineous union reveals mutations in either the α or β subunits of the amiloride-sensitive epithelial sodium channel in five kindreds that demonstrate the molecular basis and explain the pathophysiology of this disease. Expand
No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism.
TLDR
Results indicate that PHA in this family is not related to a modification of the MR primary structure, and Amplifying the MR cDNA by the polymerase chain reaction and direct sequencing of amplified products indicates that there is not a molecular abnormality present on the MR gene. Expand
A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
TLDR
The identification of a 3′ splice site mutation in SCNN1G (318-1 G→A) in three families showing linkage to 16p is reported, which suggests the presence of a founder mutation in this sub-population of PHA. Expand
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TLDR
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TLDR
Clinical manifestation of the moderate form of hereditary pseudohypoaldosteronism with electrolyte disturbance in the patient can be explained by simultaneous dysfunction of both receptor (familiar PHA Type I) and effector (transient tubular inability to conserve sodium) as a consequence of inflammation. Expand
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In this review the various clinical, biochemical and genetic findings in the different forms of pseudohypoaldosteronism will be discussed with the aim of identifying the underlying differences and similarities. Expand
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TLDR
Twenty one patients with selective aldosterone deficiency due to type 2 corticosterone methyl-oxidase defect and 7 with pseudohypoaldosteronism were studied longitudinally for up to 18 yr, finding spontaneous normalization of sodium and fluid balance with age. Expand
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