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WT1 gene

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

WT1 gene

The WT1 gene provides instructions for making a transcription factor necessary for the development of the kidneys and gonads before birth.

Normal Function

The WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before birth. After birth, WT1 protein activity is limited to a structure known as the glomerulus, which filters blood through the kidneys. The WT1 protein plays a role in cell growth, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis). To carry out these functions, the WT1 protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor.

Health Conditions Related to Genetic Changes

Denys-Drash syndrome

Many variants (mutations) in the WT1 gene have been found to cause Denys-Drash syndrome, a condition affecting the development of the kidneys and genitalia. These variants are germline, meaning they are present in cells throughout the body, and almost always occur in exon 8 and exon 9. These variants lead to the production of an abnormal WT1 protein that cannot bind to DNA, resulting in unregulated gene activity that impairs organ development.

Frasier syndrome

Variants in the WT1 gene, most often occurring in intron 9, cause Frasier syndrome. These germline variants alter the way the gene's instructions are pieced together, leading to a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs.

Wilms tumor

Variants in the WT1 gene can cause Wilms tumor, a rare form of childhood kidney cancer. Most of these variants are somatic (acquired during a lifetime), though some are germline. These variants lead to a WT1 protein with a decreased ability to bind to DNA, preventing the regulation of gene activity and allowing for uncontrolled cell growth and tumor development.

WAGR syndrome

The WT1 gene is located in a region of chromosome 11 that is often deleted in people with WAGR syndrome. This deletion affects one copy of the WT1 gene in each cell, which is responsible for the genitourinary abnormalities and the increased risk of Wilms tumor associated with the syndrome.

Other disorders

  • Meacham syndrome: Germline variants in the WT1 gene cause this condition, characterized by abnormalities in the development of male genitalia, the heart, and the diaphragm.
  • Isolated nephrotic syndrome: Variants in the WT1 gene can cause this condition, characterized by the kidneys' inability to filter waste products, leading to protein in the urine, swelling, and potential kidney failure.

Other Names for This Gene

  • WIT-2
  • WT1_HUMAN
  • WT33

Frequently Asked Questions

Blood or tissue DNA sequencing (next‑generation sequencing panels or targeted WT1 sequencing) is performed. The test looks for point mutations, deletions, or splice‑site changes, especially in exons 8 and 9 for Denys‑Drash and intron 9 for Frasier. Results are usually available within 2–4 weeks.
In infants, persistent hematuria, proteinuria, or hypertension, along with ambiguous genitalia or cryptorchidism, should raise suspicion. Early renal ultrasound and hormone levels can help identify structural or functional kidney anomalies.
WT1 protein is normally active only in the glomerulus. Mutations can impair podocyte function, leading to progressive proteinuria, nephrotic syndrome, and eventual chronic kidney disease. Monitoring kidney function with creatinine, eGFR, and urine protein is essential.
WT1 mutations increase the risk of Wilms tumor, especially in children with Denys‑Drash syndrome. With early detection and standard chemotherapy plus surgery, survival rates are high, but long‑term surveillance with abdominal imaging is recommended.
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.