Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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 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:

Nephronophthisis 19
DCDC2

References:

1.

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

external link
2.

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

external link
3.

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.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

Orphanet article

Orphanet ID 434377 external link
8.

NCBI article

NCBI 51473 external link
9.

OMIM.ORG article

Omim 605755 external link
10.

Wikipedia article

Wikipedia EN (DCDC2) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues