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SALL4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SALL4 gene

The SALL4 gene belongs to the SALL family and plays a critical role in the formation of tissues and organs during embryonic development.

Normal Function

The SALL4 gene provides instructions for making proteins that act as transcription factors, attaching to specific regions of DNA to control the activity of particular genes. While the exact function of the SALL4 protein remains under investigation, it appears to play a critical role in the development of limbs, the nerves that control eye movement, and the formation of the walls (septa) that divide the heart into separate chambers.

Health Conditions Related to Genetic Changes

Duane-radial ray syndrome

More than 25 mutations in the SALL4 gene have been identified in people with Duane-radial ray syndrome (also known as Okihiro syndrome) or the similar acro-renal-ocular syndrome. Most of these mutations create a premature stop signal, resulting in cells that do not produce any functional protein from one copy of the gene. Researchers are investigating how this reduction in SALL4 protein disrupts eye, heart, and limb development.

IVIC Syndrome

At least one mutation in the SALL4 gene has been found to cause IVIC syndrome. This mutation creates a premature stop signal, leading to the production of an abnormally short version of the protein. Major features of this condition include:

  • Abnormally formed bones in the arms and hands
  • Hearing loss
  • Problems with eye movement caused by abnormalities of the extraocular muscles

Other Related Conditions

Changes in the SALL4 gene are also associated with:

  • Anophthalmia/Microphthalmia
  • Coloboma

Genomic Location

The SALL4 gene is found on chromosome 20.

Frequently Asked Questions

Given the multi-systemic nature of SALL4-related syndromes, a team of specialists is usually involved. This may include a geneticist for diagnosis and counseling, an ophthalmologist for eye issues, an orthopedist for limb and bone abnormalities, a cardiologist for heart defects, and an audiologist for hearing loss. Physical and occupational therapists may also be crucial for developmental support.
Conditions linked to SALL4 gene mutations often involve abnormalities of the limbs, eyes, and heart. Duane-radial ray syndrome typically presents with eye movement problems (Duane anomaly), malformed or absent thumb bones, and other radial ray defects in the arms. IVIC syndrome shares some features, including abnormally formed bones in the arms and hands, hearing loss, and issues with eye movement.
The SALL4 gene provides instructions for a protein that acts as a transcription factor, controlling the activity of other genes critical for embryonic development. When mutated, this protein's function is disrupted, leading to errors in the formation of structures like the bones of the arms and hands, the nerves that control eye movement, and the septa (walls) that divide the heart chambers. This disruption results in the characteristic developmental abnormalities seen in SALL4-related syndromes.
While there is no cure for the underlying genetic mutation, treatment focuses on managing the specific symptoms and developmental issues. This can include surgical interventions for heart defects or limb abnormalities, corrective lenses or surgery for eye problems, hearing aids for hearing loss, and physical or occupational therapy to improve motor skills and daily function. Regular monitoring by specialists is essential to address new challenges as they arise.
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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