Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

doi:10.1038/s41436-020-00958-1

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Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021

Drougat Ludivine, Settas Nikolaos, Ronchi Cristina L, Bathon Kerstin, Calebiro Davide, Maria Andrea Gutierrez, Haydar Sara, Voutetakis Antonios, London Edra, Faucz Fabio R, Stratakis Constantine A

Abstract excerpt

PURPOSE: Protein kinase A (PKA) subunit defects (in PRKAR1A and PRKACA) are known to contribute to adrenal tumor pathogenesis. We studied the PRKAR1B gene for any genetic changes in bilateral adrenocortical hyperplasia (BAH) and cortisol-producing adrenal adenomas (CPA). METHODS: Exome sequencing and PRKAR1B copy-number variant (CNV) analysis were performed in 74 patients with BAH and 21 with CPA. PKA activity...

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Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

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