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CDT1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDT1 gene

The CDT1 gene provides instructions for a protein essential to DNA replication, ensuring that a cell's genetic material is copied accurately before division.

Normal Function

The CDT1 gene provides instructions for making a protein that is a key component of the pre-replication complex. This complex attaches to specific regions of DNA known as origins of replication, where DNA copying begins.

This process, called replication licensing, is tightly controlled to ensure that DNA replication occurs only once per cell division. This mechanism is required for cells to divide properly.

Health Conditions Related to Genetic Changes

Meier-Gorlin syndrome

Mutations in the CDT1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the CDT1 protein, typically by changing single amino acids or leading to the production of an abnormally short protein.

As a result, the assembly of the pre-replication complex is impaired, which disrupts replication licensing. Researchers speculate that this reduction delays the cell division process, slowing the growth of bones and other tissues during development.

Frequently Asked Questions

Currently, there are no therapies that directly correct the replication licensing defect. Management focuses on supportive care: monitoring growth, addressing orthopedic and ENT issues, and providing educational support for any developmental delays. Research is ongoing into small‑molecule modulators of DNA replication, but these are not yet clinically available.
Children with Meier‑Gorlin syndrome often have proportionate short stature and small or absent kneecaps (patellae). Growth should be plotted on standard height curves every 3‑6 months, and endocrine evaluation for growth hormone deficiency is recommended. Orthopedic follow‑up is important to assess knee stability and plan for possible surgical reconstruction if the patella is absent or hypoplastic. Physical therapy can help maintain joint function and muscle strength.
Yes. A characteristic feature is microtia (small ears) and sometimes dental anomalies such as delayed tooth eruption or missing teeth. Early referral to a pediatric otolaryngologist and a dental specialist is advised, typically by age 2‑3 years, to address hearing concerns and plan for orthodontic or prosthetic interventions.
bsolutely. Even a mild phenotype confirms a pathogenic CDT1 variant, which follows an autosomal recessive inheritance pattern. Both parents are typically carriers, so there is a 25 % chance of another affected child in each pregnancy. Genetic counseling can discuss carrier testing for extended family members and options such as preimplantation genetic testing (PGT‑M) for future pregnancies.
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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