Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

ABSTRACT:

Context

GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.

Objective

The purpose of this article was determine the phenotypic presentation of 12 patients with a variety of GLIS3 mutations.

Methods

GLIS3 gene mutations were sought by PCR amplification and sequence analysis of exons 1 to 11. Clinical information was provided by the referring clinicians and subsequently using a questionnaire circulated to gain further information.

Results

We report the first case of a patient with a compound heterozygou

SUBMITTER: Dimitri P 

PROVIDER: S-EPMC4596041 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature