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WDR35 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WDR35 gene

The WDR35 gene plays a vital role in the assembly and maintenance of cilia, which are necessary for proper cell signaling and embryonic development.

Normal Function

The WDR35 gene (also known as IFT121) provides instructions for making a protein involved in the formation and maintenance of cilia. These microscopic projections are crucial for signaling pathways that transmit information within and between cells, supporting the development of the kidneys, liver, retina, and bones.

The protein produced by WDR35 is a component of IFT complex A (IFT-A), which is part of the intraflagellar transport system. This system moves materials to and from the tips of cilia. IFT-A is essential for regulating the Sonic Hedgehog signaling pathway, which governs cell growth and body patterning during embryonic development.

Health Conditions Related to Genetic Changes

Cranioectodermal dysplasia

WDR35 is the most commonly mutated gene in people with cranioectodermal dysplasia. Features include:

  • An elongated head (dolichocephaly) with a prominent forehead.
  • Short bones.
  • Abnormalities of ectodermal tissues, including teeth, hair, nails, and skin.

Mutations reduce the amount of functional WDR35 protein, impairing the IFT-A complex. This disrupts the transport of proteins within cilia, leading to structural abnormalities and a reduction in the number of cilia, which prevents normal development of bone and other tissues.

Other Disorders

  • Asphyxiating thoracic dystrophy: Associated with WDR35 mutations.
  • Short-rib polydactyly type 5: A severe condition caused by a more significant loss of WDR35 function. It is characterized by extremely short ribs, short limbs, extra fingers or toes (polydactyly), and abnormalities in organs such as the heart, kidneys, liver, and intestines. Affected individuals do not survive to birth.

Genomic Location

The WDR35 gene is found on chromosome 2.

Frequently Asked Questions

WDR35 mutations are inherited in an autosomal recessive manner. Both parents usually carry one copy of the mutated gene but are asymptomatic. Each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of an unaffected carrier, and a 25 % chance of a completely normal child. Genetic counseling is recommended for families.
While there is no cure that restores normal cilia function, supportive care focuses on managing symptoms: physical therapy for short‑bone growth, dental care for missing or malformed teeth, dermatologic treatment for skin issues, and monitoring for kidney, liver, or retinal involvement. Early intervention can improve quality of life and reduce complications.
Infants with WDR35 mutations often show an elongated head shape (dolichocephaly), a prominent forehead, and short, underdeveloped limbs. They may also have missing or malformed teeth, sparse or abnormal hair, brittle nails, and skin that is dry or thin. Early detection of these signs can prompt genetic testing and early intervention.
The diagnosis typically starts with a detailed physical exam and family history, followed by targeted genetic testing such as a single‑gene panel for ciliopathies or whole‑exome sequencing. Once a variant is found, a molecular geneticist will assess its pathogenicity using databases, in‑silico predictions, and sometimes functional studies. A confirmed pathogenic or likely pathogenic variant in WDR35 establishes the diagnosis.
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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