Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

doi:10.1210/jc.2002-021932

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Article

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

The Journal of clinical endocrinology and metabolism - 1 Jun 2003

Sartorato Paola, Lapeyraque Anne-Laure, Armanini Decio, Kuhnle Ursula, Khaldi Yasmina, Salomon Rémi, Abadie Véronique, Di Battista Eliana, Naselli Arturo, Racine Alain, Bosio Maurizio, Caprio Massimiliano, Poulet-Young Véronique, Chabrolle Jean-Pierre, Niaudet Patrick, De Gennes Christiane, Lecornec Marie-Hélène, Poisson Elodie, Fusco Anna Maria, Loli Paola, Lombès Marc, Zennaro Maria-Christina

Abstract excerpt

We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop)...

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PMID: 12788847
DOI: 10.1210/jc.2002-021932

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