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SOX10 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SOX10 gene

The SOX10 gene encodes a transcription factor essential for the development of neural crest cells, which give rise to nerves in the intestine and pigment-producing cells in the skin, hair, and eyes.

Normal Function

The SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.

During embryonic development, the SOX10 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. The protein made by the SOX10 gene directs the activity of other genes (such as MITF) that signal neural crest cells to become more specific cell types. In particular, the SOX10 protein is essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Health Conditions Related to Genetic Changes

Waardenburg syndrome

Variants (also known as mutations) in the SOX10 gene have been identified in people with Waardenburg syndrome type II and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Both types of Waardenburg syndrome are characterized by changes in skin, hair, and eye coloring and hearing loss. People with type IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage.

Most SOX10 gene variants lead to the production of an abnormal version of the SOX10 protein or prevent the gene from making any protein. An abnormal or missing SOX10 protein cannot control genes that signal neural crest cells to become specific cell types. As a result, enteric nerves and melanocytes do not form normally during embryonic development. Missing enteric nerves in certain parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome.

Researchers have found that variants in the SOX10 gene also cause a similar disorder known as peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH). This rare condition is a variant of Waardenburg syndrome type IV that also affects other parts of the nervous system. Like variants that cause other types of Waardenburg syndrome, the variants involved in PCWH lead to the production of an abnormal version of the SOX10 protein that is unable to direct the activity of other genes.

Hirschsprung disease

MedlinePlus Genetics provides information about Hirschsprung disease.

Kallmann syndrome

MedlinePlus Genetics provides information about Kallmann syndrome.

Other Names for This Gene

  • DOM
  • dominant megacolon, mouse, human homolog of
  • SOX10_HUMAN
  • SRY (sex determining region Y)-box 10
  • SRY box 10
  • SRY-related HMG-box gene 10
  • transcription factor SOX-10
  • WS4

Frequently Asked Questions

SOX10 gene mutations are associated with Waardenburg syndrome types II and IV. Common symptoms include varying degrees of hearing loss (often profound), distinctive pigmentary abnormalities such as patches of white hair (forelock), premature graying, different colored eyes (heterochromia), or unusually pale blue eyes. Type IV, also known as Waardenburg-Hirschsprung disease, additionally includes Hirschsprung disease, which affects the large intestine.
Hirschsprung disease is a condition where nerve cells (ganglion cells) are missing from a section of the large intestine, leading to severe constipation and bowel obstruction. In SOX10-related Waardenburg syndrome type IV, the SOX10 gene mutation impairs the development of neural crest cells, which are precursors to these intestinal nerve cells. This means individuals with SOX10-related Waardenburg syndrome type IV will have both the pigmentary and hearing issues, along with the gastrointestinal complications of Hirschsprung disease, which often requires surgical intervention.
SOX10-related Waardenburg syndrome is typically inherited in an autosomal dominant pattern. This means that if an affected individual has one copy of the mutated SOX10 gene, there is a 50% chance with each pregnancy that their child will inherit the mutation and develop the condition. The severity of symptoms can vary widely even within the same family. Genetic counseling can provide a more personalized risk assessment and discuss reproductive options.
Management for SOX10-related Waardenburg syndrome is multidisciplinary and symptom-specific. This includes regular audiological evaluations and potential use of hearing aids or cochlear implants for hearing loss. Ophthalmic evaluations are important for eye health. For individuals with Hirschsprung disease, surgical correction is usually necessary, followed by ongoing gastrointestinal management. Developmental assessments and genetic counseling are also crucial components of care.
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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