The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.

ABSTRACT:

Context

We have recently reported somatic mutations in the ubiquitin-specific protease USP8 gene in a small series of adenomas of patients with Cushing's disease.

Objective

To determine the prevalence of USP8 mutations and the genotype-phenotype correlation in a large series of patients diagnosed with Cushing's disease.

Design

We performed a retrospective, multicentric, genetic analysis of 134 functioning and 11 silent corticotroph adenomas using Sanger sequencing. Biochemical and clinical features were collected and examined within the context of the mutational status of USP8, and new mutations were characterized by functional studies.

Patients

A total of 145 patients who underwent surgery for an ACTH-producing pituitary adenoma.

Main outcomes measures

SUBMITTER: Perez-Rivas LG 

PROVIDER: S-EPMC4490309 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature