Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 43 homolog

The IFT43 gene encodes a subunit of the intraflagellar transport complex A (IFT-A) which plays a role in cilia assambly. Mutations cause autosomal recessive cranioectodermal dysplasia 3.

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:

Cranioectodermal dysplasia 3
IFT43
Short-rib thoracic dysplasia with or without polydactyly 18
IFT43

References:

1.

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

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2.

Gilissen C et. al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

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3.

Arts HH et. al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

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Update: Sept. 26, 2018