Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

ABSTRACT:

Objective

Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G > A; p.(Arg304Gln) (R304Q) AIP variant has been controversial. Recent data from public exome/genome databases show this variant is not infrequent. The objective of this work was to reassess the pathogenicity of R304Q based on clinical, genomic, and functional assay data.

Design

Data were collected on published R304Q pituitary neuroendocrine tumour cases and from International Familial Isolated Pituitary Adenoma Consortium R304Q cases (n = 38, R304Q cohort). Clinical features, population cohort frequency, computational analyses, prediction models, presence of loss-of-heterozygos

SUBMITTER: Loughrey PB 

PROVIDER: S-EPMC11962913 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature