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

Dapper homolog 1

The DACT1 gene encodes a protein involved in signal transduction during development. Mutations cause autosomal dominant Townes-Brocks syndrome 2.

Genetests:

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

Related Diseases:

Townes-Brocks syndrome 2
DACT1

References:

1.

Webb BD et al. (2017) Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

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2.

Cheyette BN et al. (2002) Dapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formation.

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3.

Katoh M et al. (2003) Identification and characterization of human DAPPER1 and DAPPER2 genes in silico.

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4.

Park JI et al. (2006) Frodo links Dishevelled to the p120-catenin/Kaiso pathway: distinct catenin subfamilies promote Wnt signals.

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5.

Suriben R et al. (2009) Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak.

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6.

Shi Y et al. (2012) Identification of novel rare mutations of DACT1 in human neural tube defects.

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7.

Orphanet article

Orphanet ID 315395 external link
8.

NCBI article

NCBI 51339 external link
9.

OMIM.ORG article

Omim 607861 external link
Update: Aug. 14, 2020
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