Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 122 homolog

The IFT122 gene encodes a WD-repeat Protein which is involved in cilia function. Mutations cause autosomal recessive cranioectodermal dysplasia 1.

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:

Cranioectodermal dysplasia 1
IFT122

References:

1.

Zaffanello M et al. (2006) Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.

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2.

Fry AE et al. (2009) Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

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3.

Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

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4.

Claudio JO et al. (1999) Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13.

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5.

Gross C et al. (2001) Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.

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6.

Orphanet article

Orphanet ID 235207 [^]
7.

NCBI article

NCBI 55764 [^]
8.

OMIM.ORG article

Omim 606045 [^]
Update: April 29, 2019