ea0029p32 | Adrenal cortex | ICEECE2012
Mulatero P.
, Tauber P.
, Zennaro M.
, Monticone S.
, Lang K.
, Beuschlein F.
, Fischer E.
, Burrello J.
, Pallauf A.
, Galmozzi M.
, Amar L.
, Williams T.
, Strom T.
, Graf E.
, Bandulik S.
, Penton D.
, Plouin P.
, Warth R.
, Allolio B.
, Jeunemaitre X.
, Veglio F.
, Reincke M.
Primary Aldosteronism (PA) 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 two PA affected subjects f...