Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

ABSTRACT:

Background

Carney complex (CNC) is a familial multiple neoplasia syndrome frequently associated with primary pigmented nodular adrenocortical disease (PPNAD), a bilateral form of micronodular adrenal hyperplasia that leads to Cushing's syndrome (CS). Germline PRKAR1A mutations cause CNC and only rarely isolated PPNAD.

Patients and methods

PRKAR1A mutation analysis in two large families with CS and no other CNC manifestations demonstrated a M1V germline mutation; a total of 21 asymptomatic individuals were screened, and mutation carriers were evaluated for CNC. The mutation was expressed in vitro and functionally tested for its effects on protein kinase A function.

Results

Presymptomatic testing identified five first-degree relatives who were M1V carriers and who were

SUBMITTER: Pereira AM 

PROVIDER: S-EPMC2805491 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature