ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers.

Chika KyoTakeshi UsuiRieko KosugiMizuki ToriiTakako YonemotoTatsuo OgawaMasato KotaniNaohisa TamuraYutaro YamamotoTakuyuki KatabamiIsao KuriharaKohei SaitoNaotetsu KanamotoHidenori FukuokaNorio WadaHiroyuki MurabeTatsuhide Inoue

Published in: Journal of the Endocrine Society (2019)

ARMC5 pathogenic variants are common (71%) in Japanese patients with PMAH. p.R619* might be a hot spot in Japanese patients with PMAH. Asymptomatic or presymptomatic pathogenic variant carriers were found among the family members of the patients. Although 50% of ARMC5 variant carriers had nonadrenal neoplastic lesions, no LOH or second hit of ARMC5 in the tumor tissues was evident. The ARMC5 variant-positive mutant group showed a higher basal cortisol level than the negative group.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
gene expression
prognostic factors
copy number
patient reported outcomes
wild type