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TWIST1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TWIST1 gene

The TWIST1 gene provides instructions for a protein that regulates embryonic development, particularly of the head, face, and limbs, and is associated with several craniosynostosis syndromes.

Normal Function

The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of particular genes. Specifically, the TWIST1 protein is part of a large protein family called basic helix-loop-helix (bHLH) transcription factors. Each of these proteins includes a region called the bHLH domain, which determines the protein's 3-dimensional shape and enables it to target particular sequences of DNA. The bHLH family of transcription factors helps regulate the development of many organs and tissues before birth.

During embryonic development, the TWIST1 protein is essential for the formation of cells that give rise to bone, muscle, and other tissues in the head and face. The TWIST1 protein also plays a role in the early development of the arms and legs. Researchers believe that the TWIST1 protein regulates several genes that are known to be key players in bone formation, including the FGFR2 and RUNX2 genes.

Health Conditions Related to Genetic Changes

Saethre-Chotzen syndrome

More than 180 mutations in the TWIST1 gene have been identified in people with Saethre-Chotzen syndrome. This condition is characterized by the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face. Abnormalities of the hands and feet are also frequent. TWIST1 gene mutations prevent one copy of the gene in each cell from producing any functional protein. A shortage of functional TWIST1 protein affects the development and maturation of cells in the skull, face, arms, and legs.

Other disorders

At least two mutations in the TWIST1 gene have been found to cause a very rare disorder called Sweeney-Cox syndrome. This condition is characterized by widely spaced eyes (hypertelorism), abnormal eyelids and ears, unusually small bones in the face and jaw, and abnormal development or fusion of skull bones. The abnormal protein produced from the mutated copy of the gene is thought to impair the function of the protein produced from the normal copy, severely reducing TWIST1 protein activity.

TWIST1 gene mutations have also been found in several people with isolated craniosynostosis. These mutations occur near the end of the gene in a region known as the TWIST box domain. This domain enables the TWIST1 protein to bind to and regulate the RUNX2 gene. Researchers believe that mutations in the TWIST box domain prevent the TWIST1 protein from effectively controlling the activity of the RUNX2 gene, which disrupts the normal pattern of bone formation in the skull.

Other Names for This Gene

  • acrocephalosyndactyly 3
  • ACS3
  • B-HLH DNA binding protein
  • CRS1
  • H-twist
  • SCS
  • Transcription factor TWIST
  • TWIST
  • twist basic helix-loop-helix transcription factor 1
  • Twist Homolog
  • twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
  • twist homolog 1 (Drosophila)
  • TWST1_HUMAN

Frequently Asked Questions

The primary treatment for craniosynostosis in Saethre-Chotzen syndrome is surgical correction. The timing and type of surgery depend on which sutures are fused and the child's age. Surgery aims to reshape the skull, relieve pressure on the brain, and allow for normal brain growth. Multiple surgeries may be required throughout childhood. Early intervention is often recommended to achieve the best outcomes.
Saethre-Chotzen syndrome is primarily characterized by craniosynostosis, which is the premature fusion of skull bones, leading to an abnormally shaped head and face. Other common features include a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and small ears. Hand and foot abnormalities, such as short fingers (brachydactyly), webbing between fingers or toes (syndactyly), and a broad great toe, are also frequent. Complications can arise from craniosynostosis, including increased pressure on the brain, which may affect development.
Diagnosis of Saethre-Chotzen syndrome is often suspected based on characteristic physical features at birth or in early childhood. Imaging studies like X-rays or CT scans of the skull can confirm craniosynostosis. Genetic testing for mutations in the TWIST1 gene provides a definitive diagnosis. A multidisciplinary team of specialists, including geneticists, craniofacial surgeons, neurosurgeons, ophthalmologists, and audiologists, is typically involved in the diagnosis and management.
Yes, Saethre-Chotzen syndrome is inherited in an autosomal dominant pattern. This means that only one copy of the altered TWIST1 gene in each cell is sufficient to cause the condition. If a parent has Saethre-Chotzen syndrome, there is a 50% chance with each pregnancy that their child will inherit the altered gene and develop the condition. Genetic counseling is highly recommended for affected individuals and their families to understand the inheritance pattern and discuss reproductive options.
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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