Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

ABSTRACT:

Context

The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism.

Objective

Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD).

Design

Patients were selected from participants in the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) program. Patients with mutations within established candidate genes were excluded.

Patients

A total of 165 patients with MPHD defined as GH deficiency and

SUBMITTER: Flemming GM 

PROVIDER: S-EPMC3590478 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature