Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

ABSTRACT:

Context

Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed.

Objective

We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph adenomas.

Design and methods

The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD. Clinical, biochemical, and imaging data were compared between patients with and without somatic USP8 mutations.

Results

Five different USP8 mutations (three missense, one frameshift, and one in-frame deletion) were iden

SUBMITTER: Faucz FR 

PROVIDER: S-EPMC5546857 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature