De Sousa, S.M.C.Stowasser, M.Feng, J.Schreiber, A.W.Wang, P.Hahn, C.N.Gordon, R.D.Torpy, D.J.Scott, H.S.Gagliardi, L.2025-12-172025-12-172017Journal of Human Hypertension, 2017; 31(12):857-8590950-92401476-5527https://hdl.handle.net/11541.2/129447Germline loss-of-function mutations in the armadillo-repeat-containing 5 (ARMC5) gene are an established cause of Cushing's syndrome due to bilateral macronodular adrenal hyperplasia (BMAH), 1,2 and may play a role in primary aldosteronism. 3 As familial hyperaldosteronism type II (FH-II) has a presumed genetic basis, 4 we hypothesised that germline ARMC5 mutations underlie FH-II. We interrogated whole-exome sequencing data from four FH-II families. We did not identify any pathogenic ARMC5 variants which segregated with the phenotype of primary aldosteronism.enCopyright 2017 Macmillan Publishers Limited, part of Springer Natureadrenal gland diseasesgenetics researchHumansHyperaldosteronismGenetic Predisposition to DiseaseTumor Suppressor ProteinsRisk FactorsPedigreeDNA Mutational AnalysisHeredityPhenotypeGerm-Line MutationAdultAgedMiddle AgedFemaleMaleWhole Exome SequencingJournal article10.1038/jhh.2017.712-s2.0-85033214798De Sousa, S.M.C. [0000-0003-0127-6482]Schreiber, A.W. [0000-0002-9081-3405]Hahn, C.N. [0000-0001-5105-2554]Torpy, D.J. [0000-0002-5069-0981]Scott, H.S. [0000-0002-5813-631X]