4.7 Review

Update on Genetics of Primary Aldosteronism

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Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism

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Summary: Rare germline variants in the PDE2A and PDE3B genes were found to be associated with PA caused by BAH, expanding the spectrum of genetic etiologies of PA.

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KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated With a Worse Baseline Status and Better Recovery of Left Ventricular Remodeling and Diastolic Function

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Summary: Patients with KCNJ5 gene mutations in aldosterone-producing adenoma exhibit higher left ventricular mass index and inappropriately excessive LVMI before surgery, and experience greater regression of LVMI and ieLVMI postoperatively. These mutation carriers also benefit from improved left ventricular diastolic function after adrenalectomy, compared to noncarriers.

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Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia

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Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma

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HYPERTENSION (2020)

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Comprehensive Analysis of Steroid Biomarkers for Guiding Primary Aldosteronism Subtyping

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Histological Characterization of Aldosterone-producing Adrenocortical Adenomas with Different Somatic Mutations

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Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma

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HYPERTENSION (2020)

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The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans

Joshua J. Joseph et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

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De novo CACAN1D Ca2+channelopathies: clinical phenotypes and molecular mechanism

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PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2020)

Article Endocrinology & Metabolism

DNA Methylation of Steroidogenic Enzymes in Benign Adrenocortical Tumors: New Insights in Aldosterone-Producing Adenomas

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Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients

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Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas

Juilee Rege et al.

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A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia

Maria Carmen De Mingo Alemany et al.

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Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks

Kazutaka Nanba et al.

HYPERTENSION (2019)

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KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism

Leticia A. P. Vilela et al.

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RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas

Samuel Backman et al.

SCIENTIFIC REPORTS (2019)

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A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma

Ravi Kumar Dutta et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)

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Primary Aldosteronism: KCNJ5 Mutations and Adrenocortical Cell Growth

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HYPERTENSION (2019)

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GSTA1 Expression Is Correlated With Aldosterone Level in KCNJ5-Mutated Adrenal Aldosterone-Producing Adenoma

Xintao Li et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

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Renal Outcomes in Medically and Surgically Treated Primary Aldosteronism

Gregory L. Hundemer et al.

HYPERTENSION (2018)

Article Peripheral Vascular Disease

Adrenalectomy Lowers Incident Atrial Fibrillation in Primary Aldosteronism Patients at Long Term

Gian Paolo Rossi et al.

HYPERTENSION (2018)

Article Endocrinology & Metabolism

Aldosterone Suppression by Dexamethasone in Patients With KCNJ5-Mutated Aldosterone-Producing Adenoma

Kosuke Inoue et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Genetics & Heredity

CLCN2 chloride channel mutations in familial hyperaldosteronism type II

Ute I. Scholl et al.

NATURE GENETICS (2018)

Article Genetics & Heredity

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Fabio L. Fernandes-Rosa et al.

NATURE GENETICS (2018)

Article Endocrinology & Metabolism

Cardiometabolic outcomes and mortality in medically treated primary aldosteronism: a retrospective cohort study

Gregory L. Hundemer et al.

LANCET DIABETES & ENDOCRINOLOGY (2018)

Article Endocrinology & Metabolism

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans

Kazutaka Nanba et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

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Prevalence of Somatic KCNJ5 Mutations in Thai Patients With Aldosterone-Producing Adrenal Adenomas

Wasita Warachit et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2018)

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The prevalence of CTNNB1 mutations in primary aldosteronism and consequences for clinical outcomes

Vin-Cent Wu et al.

SCIENTIFIC REPORTS (2017)

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Characteristics of Japanese aldosterone-producing adenomas with KCNJ5 mutations

Takashi Okamura et al.

ENDOCRINE JOURNAL (2017)

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Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing Adenomas

Tracy Ann Williams et al.

HYPERTENSION (2016)

Article Medical Laboratory Technology

Mass Spectrometry-Based Adrenal and Peripheral Venous Steroid Profiling for Subtyping Primary Aldosteronism

Graeme Eisenhofer et al.

CLINICAL CHEMISTRY (2016)

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GNAS mutations in adrenal aldosterone-producing adenomas

Yasuyo Nakajima et al.

ENDOCRINE JOURNAL (2016)

Article Endocrinology & Metabolism

Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations

Kazutaka Nanba et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

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Hypomethylation of CYP11B2 in Aldosterone-Producing Adenoma

Yoko Yoshii et al.

HYPERTENSION (2016)

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Molecular Heterogeneity in Aldosterone-Producing Adenomas

Kazutaka Nanba et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

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Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations

Takumi Kitamoto et al.

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PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas

Yara Rhayem et al.

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The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline

John W. Funder et al.

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Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production

Namita G. Hattangady et al.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2016)

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Activating mutations in CTNNB1 in aldosterone producing adenomas

Tobias Akerstrom et al.

SCIENTIFIC REPORTS (2016)

Article Medicine, General & Internal

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

Georgios Daniil et al.

EBIOMEDICINE (2016)

Article Multidisciplinary Sciences

Genetics of Aldosterone-Producing Adenoma in Korean Patients

A. Ram Hong et al.

PLOS ONE (2016)

Article Peripheral Vascular Disease

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

P. Mulatero et al.

JOURNAL OF HUMAN HYPERTENSION (2016)

Article Endocrinology & Metabolism

Integration of transcriptome and methylome analysis of aldosterone-producing adenomas

Masanori Murakami et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)

Article Peripheral Vascular Disease

Comparison of Cardiovascular Complications in Patients with and without KCNJ5 Gene Mutations Harboring Aldosterone-producing Adenomas

Takumi Kitamoto et al.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2015)

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A Case of Severe Hyperaldosteronism Caused by a De Novo Mutation Affecting a Critical Salt Bridge Kir3.4 Residue

Silvia Monticone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

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A Meta-Analysis of Somatic KCNJ5 K+ Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma

Livia Lenzini et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Novel KCNJ5 Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance

Chih-Jen Cheng et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

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Primary Aldosteronism and ARMC5 Variants

Mihail Zilbermint et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells

Iris Hardege et al.

MOLECULAR ENDOCRINOLOGY (2015)

Article Biochemistry & Molecular Biology

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

Annabel Berthon et al.

HUMAN MOLECULAR GENETICS (2014)

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Somatic ATP1A1, ATP2B3, and KCNJ5 Mutations in Aldosterone-Producing Adenomas

Tracy Ann Williams et al.

HYPERTENSION (2014)

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Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma

Fabio Luiz Fernandes-Rosa et al.

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Integrated Analysis of Genome-Wide Methylation and Gene Expression Shows Epigenetic Regulation of CYP11B2 in Aldosteronomas

Brandi Howard et al.

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A Novel KCNJ5-insT149 Somatic Mutation Close to, but Outside, the Selectivity Filter Causes Resistant Hypertension by Loss of Selectivity for Potassium

Maniselvan Kuppusamy et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

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Adrenal Nodularity and Somatic Mutations in Primary Aldosteronism: One Node Is the Culprit?

T. Dekkers et al.

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Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

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Long-Term Cardio- and Cerebrovascular Events in Patients With Primary Aldosteronism

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A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

Silvia Monticone et al.

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Article Cell Biology

KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling

Sheerazed Boulkroun et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2013)

Article Genetics & Heredity

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Elena A. B. Azizan et al.

NATURE GENETICS (2013)

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KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

Paolo Mulatero et al.

HYPERTENSION (2012)

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Expression and Mutations of KCNJ5 mRNA in Japanese Patients with Aldosterone-Producing Adenomas

Ryo Taguchi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

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A Novel Point Mutation in the KCNJ5 Gene Causing Primary Hyperaldosteronism and Early-Onset Autosomal Dominant Hypertension

Evangelia Charmandari et al.

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Effect of KCNJ5 Mutations on Gene Expression in Aldosterone-Producing Adenomas and Adrenocortical Cells

Silvia Monticone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Multidisciplinary Sciences

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5

Ute I. Scholl et al.

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Constitutive β-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development

Annabel Berthon et al.

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A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism

David S. Geller et al.

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