Paolo Mulatero, Philipp Tauber, Maria-Christina Zennaro, Silvia Monticone, Katharina Lang, Felix Beuschlein, Evelyn Fischer, Davide Tizzani, Anna Pallauf, Andrea Viola, Laurence Amar, Tracy Ann Williams, Tim M Strom, Elisabeth Graf, Sascha Bandulik, David Penton, Pierre-François Plouin, Richard Warth, Bruno Allolio, Xavier Jeunemaitre, Franco Veglio, Martin Reincke
Primary aldosteronism is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified a new germline G151E mutation in 2 primary aldosteronism-affected subjects from an Italian family and 3 somatic mutations in aldosterone-producing adenomas, T158A described previously as a germline mutation associated with FH-III, and G151R and L168R both described as somatic mutations in aldosterone-producing adenoma...
February 2012: Hypertension