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MESP2 gene

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

MESP2 gene

The MESP2 gene provides instructions for making a transcription factor that plays a critical role in embryonic development, specifically in the formation of the spine and ribs.

Normal Function

The MESP2 gene provides instructions for making a transcription factor, a protein that attaches to specific regions of DNA to control the activity of other genes. The MESP2 protein controls the activity of genes in the Notch pathway, which is essential for embryonic development.

Specifically, MESP2 is involved in somite segmentation, the process of separating future vertebrae from one another. It regulates Notch activity by activating genes that block the activity of the NOTCH1 protein. Through these mechanisms, MESP2 helps mark the boundary separating future vertebrae.

Health Conditions Related to Genetic Changes

Spondylothoracic dysostosis

At least three mutations in the MESP2 gene have been found to cause spondylothoracic dysostosis, a condition characterized by abnormal development of the bones in the spine and ribs.

  • Genetic Mutations: Known mutations include those that replace an amino acid with a premature stop signal (Glu103Ter and Glu230Ter) or replace one amino acid with another (Leu125Val).
  • Mechanism: These mutations prevent the production of the protein or result in a nonfunctional, abnormally short protein. When MESP2 is absent or nonfunctional, the NOTCH1 protein becomes abnormally active, preventing the formation of boundaries between future vertebrae. This leads to the malformation and fusion of the bones of the spine and ribs.

Other Names for This Gene

  • bHLHc6
  • class C basic helix-loop-helix protein 6
  • mesoderm posterior 2 homolog (mouse)
  • mesoderm posterior basic helix-loop-helix transcription factor 2
  • mesoderm posterior protein 2
  • MESP2_HUMAN
  • SCDO2

Frequently Asked Questions

Diagnosis usually begins with prenatal ultrasound or fetal MRI that shows abnormal vertebral segmentation or rib anomalies. After birth, a detailed skeletal X‑ray series confirms the pattern of fused or misshapen vertebrae. Definitive confirmation is obtained by molecular genetic testing (sequencing of the MESP2 gene) on a blood or buccal sample to identify pathogenic mutations.
Management is primarily surgical and supportive. Orthopedic surgeons may perform spinal fusion, rib grafting, or corrective osteotomies to improve stability and respiratory function. Early intervention with physiotherapy, respiratory therapy, and monitoring for scoliosis is essential. Prognosis varies: many children survive into adulthood with adequate surgical correction, but severe thoracic insufficiency can lead to chronic respiratory problems and reduced life expectancy.
Yes, pathogenic MESP2 variants follow an autosomal‑recessive pattern—both parents must carry a mutation for a child to be affected. Heterozygous carriers are typically asymptomatic and do not develop SCD, although rare reports suggest very mild skeletal variations that do not require treatment.
Parents can pursue carrier testing to confirm their status, then consider prenatal diagnostic options such as chorionic villus sampling or amniocentesis with targeted MESP2 sequencing. Pre‑implantation genetic testing for monogenic disorders (PGT‑M) with in‑vitro fertilization allows selection of embryos without the pathogenic MESP2 mutations. Genetic counseling is recommended to discuss risks and 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.