Mutations in the gene encoding the catalytic subunit of protein kinase A (PRKACA) have been identified in cortisol-producing adrenal adenomas from patients with corticotropin-independent Cushing syndrome. Germline duplications of PRKACA resulted in bilateral adrenal hyperplasias, whereas somatic mutations in this gene were associated with unilateral cortisol-producing adrenal adenomas.
References
Beuschlein, F. et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. NEJM 10.1056/NEJMoa1310359
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PKA mutations are associated with Cushing syndrome. Nat Rev Endocrinol 10, 251 (2014). https://doi.org/10.1038/nrendo.2014.31
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DOI: https://doi.org/10.1038/nrendo.2014.31