The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.

ABSTRACT:

Objective

Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing's syndrome (CS) that results in increased cortisol production and bilateral enlargement of the adrenal glands. Recent work showed that the disease may be caused by germline and somatic mutations in the ARMC5 gene, a likely tumor suppressor gene (TSG). We investigated 20 different adrenal nodules from one patient with PMAH for ARMC5 somatic sequence changes.

Design

All of the nodules were obtained from a single patient who underwent bilateral adrenalectomy. DNA was extracted by standard protocol and the ARMC5 sequence was determined by the Sanger method.

Results

Sixteen of 20 adrenocortical nodules harbored, in addition to what appeared to be the germline mutation, a second somatic vari

SUBMITTER: Correa R 

PROVIDER: S-EPMC4572515 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature