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MEOX1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MEOX1 gene

The MEOX1 gene provides instructions for making a transcription factor that is essential for the proper formation of the spine and skull during early development.

Normal Function

The MEOX1 gene provides instructions for making a protein called homeobox protein MOX-1, a member of the homeobox protein family. These proteins direct the formation of body structures during early development. Homeobox protein MOX-1 acts as a transcription factor, attaching to DNA to control the activity of other genes. Its primary roles include:

  • Regulating somite segmentation, the process that separates the bones of the spine (vertebrae) from one another.
  • Ensuring developing vertebral bones maintain the correct position.
  • Assisting in the formation of the joints that connect the base of the skull and the top of the spine (cranio-cervical joints).

Health Conditions Related to Genetic Changes

Klippel-Feil syndrome

Variants in the MEOX1 gene have been found to cause Klippel-Feil syndrome. This condition is characterized by the abnormal joining (fusion) of two or more neck (cervical) vertebrae. The variants typically prevent cells from producing enough functional homeobox protein MOX-1. This loss of protein function likely leads to:

  • Unregulated somite segmentation
  • Incorrect vertebral positioning
  • Failure of the cervical vertebrae to separate completely during development

Frequently Asked Questions

targeted MEOX1 test is useful when the clinical picture includes cervical vertebral fusion, limited neck mobility, and a family history of similar findings. Identifying a pathogenic variant confirms the diagnosis, informs recurrence risk (typically autosomal recessive or dominant with variable expressivity), and may guide surveillance for associated anomalies (cardiac, renal, or auditory). Genetic counseling should accompany testing.
Management depends on severity. Mild cases often use physical therapy and a cervical collar to improve range of motion and prevent injury. More severe fusion causing neurologic compression or instability may require surgical decompression, fusion of adjacent segments, or corrective osteotomies. Post‑operative rehabilitation is essential to maintain neck function and reduce pain.
If a pathogenic MEOX1 variant is known in the family, prenatal diagnosis via chorionic villus sampling (10–12 weeks) or amniocentesis (15–18 weeks) can detect the mutation. Non‑invasive prenatal testing (NIPT) does not currently assess single‑gene disorders like MEOX1. Detailed fetal ultrasound and, when indicated, fetal MRI can evaluate cervical vertebral development, but genetic testing provides definitive information.
Yes. If the identified variant follows an autosomal recessive pattern, siblings may be carriers without any clinical signs. If it is autosomal dominant with reduced penetrance, they could carry the mutation and remain asymptomatic or develop milder features later. Carrier testing is recommended for at‑risk relatives, especially if future family planning is considered.
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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