carney complex

Summary

Summary: Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).

Top Publications

  1. Kiefer F, Winhofer Y, Iacovazzo D, Korbonits M, Wolfsberger S, Knosp E, et al. PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. Eur J Endocrinol. 2017;177:K7-K12 pubmed publisher
    b>Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A...
  2. Ye H, Wang X, Constans M, Sussman C, Chebib F, Irazabal M, et al. The regulatory 1? subunit of protein kinase A modulates renal cystogenesis. Am J Physiol Renal Physiol. 2017;313:F677-F686 pubmed publisher
    ..of these observations in humans we looked for and found evidence for kidney and liver cystic phenotypes in the Carney complex, a tumoral syndrome caused by mutations in PRKAR1A These observations expand our understanding of the ..