Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Zinc finger protein GLIS3

The zinc finger protein GLIS3 is a transcription factor that acts as both repressor and activator. Mutations cause autosomal recessive neonatal diabetes mellitus with congenital hypothyroidism.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Neonatal diabetes mellitus with congenital hypothyroidism



Taha D et. al. (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?


Kim YS et. al. (2003) GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions.


Senée V et. al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.


Beak JY et. al. (2008) Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).


Kang HS et. al. (2009) Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.


Dimitri P et. al. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype.


Dimitri P et. al. (2015) Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Update: Sept. 26, 2018