Carney Complex - Pathophysiology

Pathophysiology

Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q23-q24, which may function as a tumor-suppressor gene. The encoded protein is a type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of people with Carney complex.

Less commonly, the molecular pathogenesis of Carney complex is a variety of genetic changes at chromosome 2p16.

Both types of Carney complex are autosomal dominant. Despite dissimilar genetics, there appears to be no phenotypic difference between PRKAR1A and chromosome 2p16 mutations.