Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tectonic-1

The TCTN1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 13.

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:

Joubert syndrome 13
TCTN1

References:

1.

Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

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2.

Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

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3.

Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.

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4.

NCBI article

NCBI 79600 [^]
5.

OMIM.ORG article

Omim 609863 [^]
6.

Orphanet article

Orphanet ID 274226 [^]
Update: April 29, 2019