Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 140

The IFT140 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause recessive Short-rib thoracic dysplasia with or without polydactyly 9.

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 09
IFT140

References:

1.

Nagase T et. al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Perrault I et. al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

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3.

Schmidts M et. al. (2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

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4.

Miller KA et. al. (2013) Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

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Update: Sept. 26, 2018