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Genetics

Pinpointing a hotspot in adrenal Cushing syndrome

A gain-of-function point mutation in the gene that encodes one of the catalytic subunits of protein kinase A (PRKACA) in cortisol-producing adrenocortical adenomas has been independently reported by three groups. This hotspot point mutation (c.617T>G PRKACA) drives increased cAMP signalling and expands the pathogenic role of protein kinase A in benign lesions of the adrenal cortex.

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Correspondence to Thomas J. Giordano.

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Giordano, T. Pinpointing a hotspot in adrenal Cushing syndrome. Nat Rev Endocrinol 10, 447–448 (2014). https://doi.org/10.1038/nrendo.2014.89

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  • DOI: https://doi.org/10.1038/nrendo.2014.89

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