Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

doi:10.1038/ng.2695

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Article

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

Nature genetics - 1 Sept 2013

Scholl Ute I, Goh Gerald, Stölting Gabriel, de Oliveira Regina Campos, Choi Murim, Overton John D, Fonseca Annabelle L, Korah Reju, Starker Lee F, Kunstman John W, Prasad Manju L, Hartung Erum A, Mauras Nelly, Benson Matthew R, Brady Tammy, Shapiro Jay R, Loring Erin, Nelson-Williams Carol, Libutti Steven K, Mane Shrikant, Hellman Per, Westin Gunnar, Åkerström Göran, Björklund Peyman, Carling Tobias, Fahlke Christoph, Hidalgo Patricia, Lifton Richard P

Abstract excerpt

Adrenal aldosterone-producing adenomas (APAs) constitutively produce the salt-retaining hormone aldosterone and are a common cause of severe hypertension. Recurrent mutations in the potassium channel gene KCNJ5 that result in cell depolarization and Ca(2+) influx cause ∼40% of these tumors. We identified 5 somatic mutations (4 altering Gly403 and 1 altering Ile770) in CACNA1D, encoding a voltage-gated calcium...

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Identifiers

PMID: 23913001
DOI: 10.1038/ng.2695
PMCID: PMC3876926

Genes

KCNJ5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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