ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II)
Date
2017
Authors
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.
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Journal article
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Journal of Human Hypertension, 2017; 31(12):857-859
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Abstract
Germline 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.
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Copyright 2017 Macmillan Publishers Limited, part of Springer Nature