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.

Genetests:

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

Related Diseases:

Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

Orphanet article

Orphanet ID 165848 [^]
9.

NCBI article

NCBI 169792 [^]
10.

OMIM.ORG article

Omim 610192 [^]
Update: April 29, 2019