ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

ABSTRACT:

Background

Corticotropin-independent macronodular adrenal hyperplasia may be an incidental finding or it may be identified during evaluation for Cushing's syndrome. Reports of familial cases and the involvement of both adrenal glands suggest a genetic origin of this condition.

Methods

We genotyped blood and tumor DNA obtained from 33 patients with corticotropin-independent macronodular adrenal hyperplasia (12 men and 21 women who were 30 to 73 years of age), using single-nucleotide polymorphism arrays, microsatellite markers, and whole-genome and Sanger sequencing. The effects of armadillo repeat containing 5 (ARMC5) inactivation and overexpression were tested in cell-culture models.

Results

The most frequent somatic chromosome alteration was loss of heterozygosity at

SUBMITTER: Assie G 

PROVIDER: S-EPMC4727443 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature