Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion.

ABSTRACT:

Introduction

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. PAM encodes a multifunctional protein responsible for the essential C-terminal amidation of secreted peptides.

Methods

Following the identification of a loss-of-function variant (p.Arg703Gln) in the peptidylglycine a-amidating monooxygenase (PAM) gene in a family with pituitary gigantism, we investigated 299 individuals with sporadic PAs and 17 familial isolated PA kindreds for PAM variants. Genetic screening was performed by germline and tumor sequencing and germline copy number variation (CN

SUBMITTER: Trivellin G 

PROVIDER: S-EPMC10303134 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature