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SOX2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SOX2 gene

The SOX2 gene provides instructions for making a transcription factor that is essential for the development of many tissues and organs, particularly the eyes.

Normal Function

The SOX2 gene provides instructions for making a type of protein called a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help regulate the activity of other genes.

The SOX2 protein plays a critical role in regulating the genes involved in the formation of many different tissues and organs during embryonic development. It is especially important for the development of the eyes.

Health Conditions Related to Genetic Changes

Anophthalmia/Microphthalmia

Variants in the SOX2 gene can cause one or both eyes to be absent (anophthalmia) or underdeveloped and abnormally small (microphthalmia). These conditions are often considered related disorders. SOX2 gene variants are the most common genetic cause of anophthalmia and microphthalmia, particularly in cases where both eyes are affected (bilateral).

  • Loss-of-function variants: Many variants that cause these conditions reduce the activity or amount of SOX2 protein, limiting its ability to regulate early eye development.
  • Researchers are currently investigating why some individuals with these variants develop only eye abnormalities while others experience additional signs and symptoms.

Anophthalmia/microphthalmia-esophageal atresia syndrome

AEG syndrome is a rare disorder characterized by abnormal development of the eyes and other body parts, including the esophagus. People with this condition often experience:

  • Anophthalmia or microphthalmia.
  • Esophageal defects, such as a blockage of the esophagus (esophageal atresia).

This syndrome is caused by loss-of-function variants that prevent the proper regulation of genes essential for the development of these structures.

Other disorders

Variants in the SOX2 gene have been associated with several other conditions, including:

  • Coloboma
  • Combined pituitary hormone deficiency
  • Peters anomaly
  • Septo-optic dysplasia
  • Hypogonadotropic hypogonadism: A condition caused by a lack of hormones that direct sexual development. In these cases, the variant may result in a shortened, non-functional protein or the substitution of one amino acid for another.

Frequently Asked Questions

SOX2 gene variants can be inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is needed to cause the condition. However, many cases are de novo, occurring spontaneously in the affected individual. Genetic counseling is essential to determine the specific inheritance pattern in a family, assess the risk of recurrence for future pregnancies, and discuss options like prenatal diagnosis or preimplantation genetic diagnosis.
Management focuses on supporting the child's development and addressing specific needs. For eye conditions, this can involve prosthetic eyes for cosmetic purposes and to promote normal facial bone growth. Early intervention services, including occupational therapy and physical therapy, are crucial to help children adapt and develop skills. If other organs are affected, such as the esophagus, specialized medical and surgical interventions will be required.
While SOX2 gene variants are most commonly known for causing anophthalmia (absent eyes) or microphthalmia (small, underdeveloped eyes), they can also be linked to other developmental issues. These may include esophageal defects like esophageal atresia (a blockage), brain abnormalities, pituitary gland dysfunction, and genital abnormalities. A thorough medical evaluation is important to identify any co-occurring conditions.
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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