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WDR19 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WDR19 gene

The WDR19 gene is essential for the formation and maintenance of cilia, which are microscopic structures that play a critical role in cell signaling and development.

Normal Function

The WDR19 gene (also known as IFT144) 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 important for the development and function of many tissues, including the kidneys, liver, and the retina of the eye. They also play a role in bone development.

The movement of substances within cilia is known as intraflagellar transport. Cells use IFT particles to carry materials to and from the tips of cilia. These particles consist of two groups: complex A and complex B. The protein produced from the WDR19 gene forms part of IFT complex A (IFT-A), which carries materials from the tip to the base of the cilia. This complex is essential for regulating the Sonic Hedgehog signaling pathway, which is vital for cell growth, maturation, and body patterning during embryonic development.

Health Conditions Related to Genetic Changes

Cranioectodermal dysplasia

At least two mutations in the WDR19 gene have been found in individuals with cranioectodermal dysplasia. This condition is characterized by:

  • An elongated head (dolichocephaly) with a prominent forehead.
  • Short bones.
  • Abnormalities of ectodermal tissues (teeth, hair, nails, and skin).
  • Potential kidney conditions (nephronophthisis) and eye abnormalities.

Mutations reduce the amount of functional WDR19 protein, impairing 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, which impedes proper development of bone and other tissues.

Other Related Conditions

The WDR19 gene is also associated with:

  • Asphyxiating thoracic dystrophy
  • Nephronophthisis
  • Senior-Løken syndrome

Genomic Location

The WDR19 gene is found on chromosome 4.

Frequently Asked Questions

Regular urinalysis for protein and blood, serum creatinine and estimated glomerular filtration rate (eGFR) tests, and kidney ultrasounds are used to track progression. If nephronophthisis is suspected, a kidney biopsy may be considered to assess fibrosis and cyst development.
Currently, treatment is supportive: managing kidney function with ACE inhibitors or ARBs, treating electrolyte imbalances, and using vitamin A or other supplements in some cases. Research into small molecules that enhance intraflagellar transport is ongoing, but no approved disease‑modifying drugs exist yet.
Look for a long, narrow head shape (dolichocephaly), a prominent forehead, short or malformed limbs, sparse or abnormal hair, nail dystrophy, and dental anomalies such as missing or peg‑shaped teeth. Eye problems like coloboma or retinal dystrophy and kidney issues such as painless blood in the urine may also appear.
certified genetic counselor can explain inheritance patterns (autosomal recessive), estimate recurrence risk for future pregnancies, discuss options such as pre‑implantation genetic testing (PGT‑M) for embryos, prenatal testing via chorionic villus sampling or amniocentesis, and the possibility of carrier screening for relatives.
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.

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