Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Doublecortin domain-containing protein 2

The DCDC2 gene encodes a protein involved in microtubule organization and signal transduction of the primary cilium. Mutations are responsible for neuronal developmental disorders such as dyslexia, and autosomal recessive ciliopathy nephronophthisis 19.

Genetests:

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

Related Diseases:

Nephronophthisis 19
DCDC2

References:

1.

Hirosawa M et. al. (1999) Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

[^]
2.

Van Den Eynde BJ et. al. (1999) A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription.

[^]
3.

Meng H et. al. (2005) DCDC2 is associated with reading disability and modulates neuronal development in the brain.

[^]
4.

Schumacher J et. al. (2006) Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.

[^]
5.

Meng H et. al. (2011) A dyslexia-associated variant in DCDC2 changes gene expression.

[^]
6.

Schueler M et. al. (2015) DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

[^]
Update: Sept. 26, 2018