SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.

ABSTRACT:

Context

Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism. Variable additional abnormalities include defects of the corpus callosum and hippocampus.

Objective

We have ascertained a further three patients with severe eye defects and pituitary abnormalities who were screened for mutations in SOX2. To provide further evidence of a direct role for SOX2 in hypothalamo-pituitary development, we have studied the expression of the gene in human embryonic tissues.

Results

All three patients harbored heterozygous SOX2 mutations: a deletion encompassing the entire gene, an intragenic deletion (c.70_89del), and a novel nonsense mutation (p.Q61X) within the DNA binding domain tha

SUBMITTER: Kelberman D 

PROVIDER: S-EPMC3479085 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature