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

10.1038/966 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 279-281 ◽  
Author(s):  
David S. Geller ◽  
Juan Rodriguez-Soriano ◽  
Alfredo V. Boado ◽  
Søren Schifter ◽  
Milan Bayer ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Receptor Gene ◽  
Type I ◽  
Pseudohypoaldosteronism Type

scholarly journals A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

2016 ◽  
Vol 25 (4) ◽  
pp. 135-138 ◽  
Author(s):  
Yoshimi Nishizaki ◽  
Makoto Hiura ◽  
Hidetoshi Sato ◽  
Yohei Ogawa ◽  
Akihiko Saitoh ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Japanese Family ◽  
Pseudohypoaldosteronism Type

scholarly journals Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene

2006 ◽  
Vol 91 (9) ◽  
pp. 3671-3675 ◽  
Author(s):  
Fabio L. Fernandes-Rosa ◽  
Margaret de Castro ◽  
Ana Claudia Latronico ◽  
Wolfgang G. Sippell ◽  
Felix G. Riepe ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Hot Spot ◽  
Phenotypic Variability ◽  
Receptor Gene ◽  
Clinical Manifestations ◽  
Coding Region ◽  
Pseudohypoaldosteronism Type

Abstract Background: The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital mineralocorticoid resistance of the kidney. Twenty-two different loss-of-function mutations in the mineralocorticoid receptor gene have been described in families with PHA1. These mutations were not recurrent and resulted in a large phenotypic variability. Objective: The objective of this study is to analyze the recurrence of an inactivating mutation in the mineralocorticoid receptor gene in unrelated families with autosomal dominant PHA1. Patients: Seventeen members from three unrelated families with autosomal dominant PHA1 were studied, including 11 affected patients with variable clinical manifestations. Fifty healthy subjects were used as controls. Methods: Genomic DNA was extracted, and the entire coding region of the mineralocorticoid receptor gene was submitted to automatic sequencing. Four dinucleotide microsatellite markers spanning a region of 3.2 cM in the human mineralocorticoid receptor gene locus, and two intragenic polymorphisms were used for haplotype analysis. Results: A heterozygous point mutation at codon 947 (c.2839C>T) changing arginine to stop codon (R947X) was found in the three families. Different haplotypes segregated with the R947X mutation in each family, demonstrating the absence of a founder effect for this mutation. Conclusion: Codon 947 of the mineralocorticoid receptor is the first mutational hot spot for autosomal dominant PHA1.

Severe Autosomal Recessive Pseudohypoaldosteronism Type 1 Caused by Mutations in the Mineralocorticoid Receptor Gene

2011 ◽  
pp. P3-13-P3-13
Author(s):  
Edwige-Ludiwyne Hubert ◽  
Raphael Teissier ◽  
Fabio Luis Fernandes-Rosa ◽  
Michel Fay ◽  
Marie-Edith Rafestin-Oblin ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Recessive ◽  
Receptor Gene ◽  
Pseudohypoaldosteronism Type

scholarly journals A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

2011 ◽  
Vol 54 (2) ◽  
pp. 90 ◽  
Author(s):  
Se Eun Lee ◽  
Yun Hye Jung ◽  
Kyoung Hee Han ◽  
Hyun Kyung Lee ◽  
Hee Gyung Kang ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Receptor Gene ◽  
Pseudohypoaldosteronism Type

Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

2004 ◽  
Vol 24 (5) ◽  
pp. 483-487 ◽  
Author(s):  
Catherine L. Huey ◽  
Felix G. Riepe ◽  
Wolfgang G. Sippell ◽  
Alan S.L. Yu
Keyword(s):  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Type I ◽  
Pseudohypoaldosteronism Type
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