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IFT122 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IFT122 gene

The IFT122 gene is essential for the formation and maintenance of cilia, the microscopic projections on cells that facilitate signaling and development.

Normal Function

The IFT122 gene provides instructions for making a protein involved in the formation and maintenance of cilia, microscopic, finger-like projections on the surface of cells. Cilia participate in signaling pathways that transmit information within and between cells and are important for the development and function of many tissues, including the kidneys, liver, and retina. They also play a role in bone development.

The movement of substances within cilia is known as intraflagellar transport. Cells use molecules called IFT particles to carry materials to and from the tips of cilia. Each IFT particle is made up of two groups of proteins: complex A and complex B. The protein produced from the IFT122 gene forms part of IFT complex A (IFT-A), which carries materials from the tip to the base of cilia. The IFT-A complex is also essential for the regulation of the Sonic Hedgehog signaling pathway, which is important for cell growth and body patterning during embryonic development.

Health Conditions Related to Genetic Changes

Cranioectodermal dysplasia

Mutations in the IFT122 gene can cause cranioectodermal dysplasia. This condition is characterized by an elongated head (dolichocephaly), prominent forehead, short bones, and abnormalities of ectodermal tissues such as teeth, hair, nails, and skin.

Mutations in this gene reduce the amount or function of the IFT122 protein, impairing the function of the IFT-A complex. This disrupts the transport of materials within cilia, leading to a smaller number of cilia and abnormalities in their shape and structure. This loss of normal cilia function impedes the development of bone and other tissues and may disrupt signaling through the Sonic Hedgehog pathway.

Other Names for This Gene

  • CED
  • CED1
  • IF122_HUMAN
  • intraflagellar transport 122 homolog (Chlamydomonas)
  • intraflagellar transport protein 122 homolog
  • SPG
  • WD repeat domain 10
  • WD repeat-containing protein 10
  • WD repeat-containing protein 140
  • WDR10
  • WDR10p
  • WDR140

Frequently Asked Questions

The first clues often appear in infancy and include an unusually long head shape (dolichocephaly), a prominent forehead, short limbs, and abnormal teeth, hair, nails, or skin. Parents may notice delayed tooth eruption, sparse or brittle hair, and nail ridging. If these features are present together, especially with skeletal shortening, clinicians should consider a genetic evaluation for IFT122‑related cranioectodermal dysplasia.
Testing is usually done by next‑generation sequencing (NGS) of a targeted ciliopathy panel or whole‑exome sequencing. A peripheral blood sample (or saliva if blood is not feasible) provides DNA for analysis. Results can identify single‑nucleotide variants, small deletions/insertions, or splice‑site changes in the IFT122 gene.
Cranioectodermal dysplasia caused by IFT122 follows an autosomal recessive pattern. Both parents must carry one pathogenic copy of the gene, and each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Carrier testing for siblings and pre‑implantation or prenatal genetic testing are options for families who wish to assess risk in future pregnancies.
Management is multidisciplinary. Orthopedic monitoring addresses short bones and potential scoliosis; dental specialists manage delayed or malformed teeth; dermatology can help with skin and nail abnormalities; and regular ophthalmologic exams detect any retinal involvement. Physical therapy supports motor development, and growth hormone evaluation may be considered if short stature is severe. Genetic counseling is essential for the family.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.