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DVL3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DVL3 gene

The DVL3 gene provides instructions for making a protein essential for embryonic development and is linked to the autosomal dominant form of Robinow syndrome.

Normal Function

The DVL3 gene provides instructions for making a protein that plays a critical role in development before birth. It is one of three DVL genes in humans (DVL1, DVL2, and DVL3). The proteins produced from these genes work together in chemical signaling pathways known as Wnt signaling. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development. Signaling involving the DVL proteins appears to be important for the normal development of the brain, skeleton, and many other parts of the body.

Health Conditions Related to Genetic Changes

Robinow syndrome

At least six mutations in the DVL3 gene have been found to cause the autosomal dominant form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the skeleton. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.

All of the identified DVL3 gene mutations occur near one end of the gene and are predicted to shorten the DVL3 protein. The changes may have a dominant-negative effect, which means that the altered protein produced from one copy of the DVL3 gene interferes with the function of the normal protein produced from the other copy of the gene. Alternately, the changes may have a gain-of-function effect, giving the altered protein a new, as-yet-undetermined function. Either way, the abnormal DVL3 protein likely impairs Wnt signaling. Problems with Wnt signaling pathways disrupt the development of many organs and tissues before birth, leading to Robinow syndrome.

Other Names for This Gene

  • dishevelled 3 (homologous to Drosophila dsh)
  • dishevelled, dsh homolog 3
  • DRS3
  • KIAA0208
  • segment polarity protein dishevelled homolog DVL-3

Frequently Asked Questions

Key indicators include a small, bell‑shaped head (microcephaly), short stature, a prominent forehead, a broad nasal bridge, and limb shortening with short hands and feet. Facial features such as a pointed chin and a small, wide mouth may also be present. Skeletal abnormalities like vertebral segmentation defects or rib anomalies can be detected on imaging. How is a DVL3 mutation diagnosed, and what does the genetic test entail?::A definitive diagnosis is made by sequencing the DVL3 gene from a blood sample. The test looks for pathogenic variants, typically missense or truncating mutations near the 3′ end of the gene. Because Robinow syndrome is autosomal dominant, a single mutated allele is sufficient to cause the disorder. What are the main treatment options for managing the skeletal and developmental issues in Robinow syndrome?::Management is multidisciplinary. Orthopedic interventions may include limb lengthening procedures or corrective osteotomies for bone deformities. Physical therapy helps improve motor skills and muscle strength. Early developmental support, speech therapy, and educational planning are crucial for addressing cognitive and speech delays. Regular monitoring for cardiac or renal anomalies is also recommended. Is prenatal testing available for families with a known DVL3 mutation, and what are the options?::Yes. If a pathogenic DVL3 variant has been identified in a family, prenatal diagnosis can be performed via chorionic villus sampling (CVS) or amniocentesis to test fetal DNA for the same mutation. Alternatively, preimplantation genetic testing (PGT) during in vitro fertilization allows selection of embryos without the mutation. Genetic counseling is essential to discuss risks, benefits, and ethical considerations.
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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