The phenotypic spectrum associated with OTX2 mutations in humans.

ABSTRACT:

Objective

The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development.

Design

We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OTX2 expression in the human brain, with a view to investigate the mechanism of action.

Methods

We screened patients from the UK (n = 103), international centres (n = 24), and Brazil (n = 282); 145 were within the septo-optic dysplasia spectrum, and 264 had no eye phenotype. Transactivation ability of OTX2 variants was analysed in murine hypothalamic GT1-7 neurons. In situ hybridization was performed on human embryonic brain sections. Genetically engineered mice were generated with a ser

SUBMITTER: Gregory LC 

PROVIDER: S-EPMC8437083 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature