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WNT3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WNT3 gene

The WNT3 gene plays a critical role in limb outgrowth and the establishment of the body's primary axis during early embryonic development.

Normal Function

The WNT3 gene is part of a large family of WNT genes that provide instructions for making proteins involved in chemical signaling pathways. These pathways control the activity of certain genes and regulate cell interactions during embryonic development.

Research indicates that the protein produced from the WNT3 gene is critical for the outgrowth of limbs in the developing embryo and for determining the anterior-posterior axis (the head-to-tail line) during the earliest stages of development. It is also believed to be involved in the normal formation of facial features, the head, heart, lungs, nervous system, skeleton, and genitalia.

Health Conditions Related to Genetic Changes

Tetra-amelia syndrome

A mutation in the WNT3 gene has been shown to cause tetra-amelia syndrome type 1, a very rare condition characterized by the absence of all four limbs. Because of the severity of the associated medical problems, most children with this condition are stillborn or die shortly after birth.

The specific variant (Gln83Ter or Q83X) introduces a premature stop signal in the instructions for making the WNT3 protein. This results in an abnormally short, nonfunctional version of the protein. The loss of WNT3 protein activity disrupts normal limb formation and leads to other serious birth defects associated with the syndrome.

Other Names for This Gene

  • INT4
  • Oncogene INT4
  • Proto-oncogene protein Wnt-3
  • wingless-type MMTV integration site family member 3
  • wingless-type MMTV integration site family, member 3
  • WNT-3 proto-oncogene protein
  • WNT3_HUMAN

Frequently Asked Questions

Confirmation requires DNA sequencing of the WNT3 gene from a blood sample (newborn) or amniotic fluid (prenatal). Targeted mutation analysis for the common Q83X variant or other pathogenic changes is performed. A positive result confirms the diagnosis and informs prognosis and family planning.
Because the condition is lethal in most cases, treatment is primarily supportive and palliative. Management focuses on preventing infections, ensuring adequate nutrition, and providing comfort care. In rare cases where the infant survives, extensive surgical and prosthetic interventions may be needed for other organ defects, but limb reconstruction is not possible.
Tetra-amelia syndrome is usually diagnosed at birth or prenatally. Newborns may have no limbs, a flat face, a small or absent nose, and other craniofacial abnormalities. Prenatal ultrasound can reveal limb absence and other structural defects, prompting genetic counseling and testing.
Most affected infants are stillborn or die within the first days or weeks of life due to severe organ malformations. A small number of survivors may live months to a few years, but long-term survival is extremely rare. Early palliative care and family support are essential.
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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