Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

intraflagellar transport protein 52 homolog

The IFT52 gene encodes a protein that is member of the intraflagellar transport complex B. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 16.

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:

Short-rib thoracic dysplasia with or without polydactyly 16
IFT52

References:

1.

Girisha KM et. al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

[^]
2.

Zhang W et. al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

[^]
Update: Sept. 26, 2018