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CEP57 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CEP57 gene

The CEP57 gene provides instructions for a protein that stabilizes microtubules during cell division and assists in the transport of important signaling molecules.

Normal Function

The CEP57 protein is located in centrosomes, which are structures that play a vital role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape and assist in the transport of materials within the cell.

CEP57 is particularly important for the stability of spindle microtubules. During cell division, these microtubules attach to duplicated chromosomes and pull them to opposite ends of the cell. Additionally, CEP57 is involved in the transport of fibroblast growth factor 2 (FGF2), a signaling molecule that regulates the growth and development of cells and tissues.

Health Conditions Related to Genetic Changes

Mosaic variegated aneuploidy syndrome

Mutations in the CEP57 gene cause mosaic variegated aneuploidy (MVA) syndrome type 2. This condition is characterized by aneuploidy, where cells have abnormal numbers of chromosomes. Affected individuals often experience slow growth before and after birth and may have mild intellectual disability.

The mutations likely reduce the amount of functional CEP57 protein, which may lead to:

  • Spindle instability: Impairment of the protein's role in stabilizing spindle microtubules, preventing the normal separation of chromosomes during cell division.
  • Signaling impairment: A shortage of CEP57 may prevent the proper transport of FGF2, disrupting cell signaling pathways necessary for normal growth and development.

Frequently Asked Questions

Key clues include prenatal or postnatal growth restriction (weight/height below the 3rd percentile), mild intellectual disability, and a history of recurrent miscarriages or stillbirths in the family. Some children also have subtle facial dysmorphisms or congenital heart defects. When these features cluster, especially with a family history of chromosomal abnormalities, clinicians often order a chromosomal microarray or whole‑exome sequencing that includes CEP57.
Testing usually begins with a chromosomal microarray to detect mosaic aneuploidy. If abnormal, targeted next‑generation sequencing (NGS) of the CEP57 gene is performed. Pathogenicity is confirmed by identifying loss‑of‑function variants (nonsense, frameshift, splice‑site) or missense changes that have been reported in MVA patients, and by demonstrating reduced CEP57 protein levels on Western blot or immunofluorescence in cultured fibroblasts.
There is no cure, so care focuses on surveillance and supportive therapy: regular growth monitoring, early intervention for developmental delays, cardiac evaluation (echocardiogram every 1‑2 years), and hematologic screening because MVA can predispose to bone‑marrow failure. Orthopedic assessment for scoliosis or limb length discrepancy is also advised. Nutritional support and growth hormone therapy may be considered on a case‑by‑case basis.
Most CEP57 mutations causing MVA are autosomal recessive. If both parents are carriers, each subsequent pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Carrier testing and pre‑implantation genetic diagnosis are options for families planning more children.
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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