A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
Takashi SakohAkinari SekineTakayasu MoriHiroki MizunoMasahiro KawadaRikako HiramatsuEiko HasegawaNoriko HayamiMasayuki YamanouchiTatsuya SuwabeNaoki SawaYoshifumi UbaraTakuya FujimaruEisei SoharaUchida ShinichiJunichi HoshinoKenmei TakaichiPublished in: Molecular genetics & genomic medicine (2019)
We report the first Japanese familial case of PHA2 with WNK4 mutation. D564N mutation in WNK4 is a novel genetic cause of PHA2 with a relatively mild phenotype.