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ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II)

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dc.contributor.authorDe Sousa, S.M.C.
dc.contributor.authorStowasser, M.
dc.contributor.authorFeng, J.
dc.contributor.authorSchreiber, A.W.
dc.contributor.authorWang, P.
dc.contributor.authorHahn, C.N.
dc.contributor.authorGordon, R.D.
dc.contributor.authorTorpy, D.J.
dc.contributor.authorScott, H.S.
dc.contributor.authorGagliardi, L.
dc.date.issued2017
dc.description.abstractGermline 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.
dc.identifier.citationJournal of Human Hypertension, 2017; 31(12):857-859
dc.identifier.doi10.1038/jhh.2017.71
dc.identifier.issn0950-9240
dc.identifier.issn1476-5527
dc.identifier.orcidDe Sousa, S.M.C. [0000-0003-0127-6482]
dc.identifier.orcidSchreiber, A.W. [0000-0002-9081-3405]
dc.identifier.orcidHahn, C.N. [0000-0001-5105-2554]
dc.identifier.orcidTorpy, D.J. [0000-0002-5069-0981]
dc.identifier.orcidScott, H.S. [0000-0002-5813-631X]
dc.identifier.urihttps://hdl.handle.net/11541.2/129447
dc.language.isoen
dc.publisherNature
dc.relation.fundingRoyal Adelaide Hospital A.R. Clarkson Scholarship
dc.rightsCopyright 2017 Macmillan Publishers Limited, part of Springer Nature
dc.source.urihttps://doi.org/10.1038/jhh.2017.71
dc.subjectadrenal gland diseases
dc.subjectgenetics research
dc.subjectHumans
dc.subjectHyperaldosteronism
dc.subjectGenetic Predisposition to Disease
dc.subjectTumor Suppressor Proteins
dc.subjectRisk Factors
dc.subjectPedigree
dc.subjectDNA Mutational Analysis
dc.subjectHeredity
dc.subjectPhenotype
dc.subjectGerm-Line Mutation
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectFemale
dc.subjectMale
dc.subjectWhole Exome Sequencing
dc.titleARMC5 is not implicated in familial hyperaldosteronism type II (FH-II)
dc.typeJournal article
pubs.publication-statusPublished
ror.mmsid9916162697701831

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