ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions

Idiopathic hyperaldosteronism (IHA) due to bilateral adrenal hyperplasia is the most common subtype of primary aldosteronism (PA). The pathogenesis of IHA is still unknown, but the bilateral disease suggests a potential predisposing genetic alteration. Heterozygous germline mutations of armadillo re...

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Bibliographic Details
Published in:Journal of human hypertension 2016-06, Vol.30 (6), p.374-378
Main Authors: Mulatero, P, Schiavi, F, Williams, T A, Monticone, S, Barbon, G, Opocher, G, Fallo, F
Format: Article
Language:English
Subjects:
692/699/2743/1279
692/699/75/243
Adrenal Hyperplasia, Congenital - diagnostic imaging
Adrenal Hyperplasia, Congenital - ethnology
Adrenal Hyperplasia, Congenital - genetics
Adult
Aldosterone
Analysis
Armadillo Domain Proteins
Black or African American
Black People - genetics
Care and treatment
Computed tomography
Diagnosis
DNA Mutational Analysis
Endocrine disorders
Epidemiology
Female
Gene Frequency
Gene mutation
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease
Germ-Line Mutation
Health Administration
Humans
Hyperaldosteronism
Hyperaldosteronism - diagnosis
Hyperaldosteronism - ethnology
Hyperaldosteronism - genetics
Hyperplasia
Hypertension
Italy
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
original-article
Pathogenesis
Phenotype
Predictive Value of Tests
Public Health
Retrospective Studies
Risk Factors
Tomography, X-Ray Computed
Tumor Suppressor Proteins - genetics
White People - genetics
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Summary:Idiopathic hyperaldosteronism (IHA) due to bilateral adrenal hyperplasia is the most common subtype of primary aldosteronism (PA). The pathogenesis of IHA is still unknown, but the bilateral disease suggests a potential predisposing genetic alteration. Heterozygous germline mutations of armadillo repeat containing 5 ( ARMC5 ) have been shown to be associated with hypercortisolism due to sporadic primary bilateral macronodular adrenal hyperplasia and are also observed in African-American PA patients. We investigated the presence of germline ARMC5 mutations in a group of PA patients who had bilateral computed tomography-detectable adrenal alterations. We sequenced the entire coding region of ARMC5 and all intron/exon boundaries in 39 patients (37 Caucasians and 2 black Africans) with confirmed PA (8 unilateral, 27 bilateral and 4 undetermined subtype) and bilateral adrenal lesions. We identified 11 common variants, 5 rare variants with a minor allele frequency
ISSN:0950-9240
1476-5527
1476-5527
DOI:10.1038/jhh.2015.98