Wrenocortical disease (PPNAD), a rare form of adrenocorticotropic hormone (ACTH)-independent
Cushing's syndrome (CS).
1.
PPNAD may be isolated (iPPNAD) or associated with Carney complex (CNC),
1.
in which both cases inherited in an autosomal dominant manner. PRKAR1A gene, encoding the regulatory subunit type I-α (RIα) of the protein kinase A (PKA),
was found responsible for PPNAD and CNC.
2.
Mutations in PDE11A, PDE8B and CTNNB1 gene are found in patients with PPNAD.
3.
,
4.
We herein report a novel PRKAR1A gene mutation associated with PPNAD in a family. This observation is beneficial in
clarifying the molecular action of mutant PRKAR1A in tumor formation and genetic counseling.To read this article in full you will need to make a payment
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Article info
Footnotes
The authors have no financial or other conflicts of interest to disclose.
Identification
Copyright
© 2014 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.
