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CDKN1C gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDKN1C gene

The CDKN1C gene acts as a tumor suppressor by regulating cell growth and division, playing a critical role in fetal development.

Normal Function

The CDKN1C gene provides instructions for making a protein that helps regulate growth. This protein acts as a tumor suppressor, keeping cells from growing and dividing too fast or in an uncontrolled way. It is active before birth, where it regulates growth and prevents the developing fetus from becoming too large.

The activity of the CDKN1C gene is subject to genomic imprinting, a parent-specific difference in gene activation. In most tissues, the copy of the gene inherited from the egg cell is more active than the copy inherited from the sperm cell. This process is regulated by a nearby region of DNA called an imprinting center, which undergoes methylation.

Health Conditions Related to Genetic Changes

Beckwith-Wiedemann syndrome

This growth disorder is often caused by hypomethylation (too few methyl groups) of the CDKN1C imprinting center derived from the egg cell. This disrupts the regulation of several genes, including CDKN1C. Because this gene normally restrains cell growth, a reduction in its activity leads to the overgrowth characteristic of the syndrome. It can also be caused by DNA duplications or loss-of-function variants within the gene.

IMAGe syndrome

Variants in the CDKN1C gene cause IMAGe syndrome, named for its main features:

  • Intrauterine growth restriction
  • Metaphyseal dysplasia
  • Adrenal hypoplasia congenita
  • Genital anomalies

These variants are "gain-of-function" mutations that increase the stability of the CDKN1C protein, preventing it from being broken down. This excess protein impairs normal growth and development.

Silver-Russell syndrome

Rarely, gain-of-function variants in the CDKN1C gene can cause Silver-Russell syndrome, which is characterized by slow growth before and after birth. Similar to IMAGe syndrome, these variants increase the activity of the CDKN1C protein, leading to impaired growth.

Other Names for This Gene

  • BWCR
  • KIP2
  • p57
  • p57KIP2

Frequently Asked Questions

Diagnostic work‑up typically includes methylation analysis of the CDKN1C imprinting center to detect hypomethylation, followed by targeted sequencing of the CDKN1C coding region to identify point mutations or duplications. Copy‑number variation testing (array CGH or MLPA) may also be performed to detect larger deletions or duplications that affect the gene. A comprehensive panel that includes other genes involved in imprinting disorders can provide a more complete assessment.
The CDKN1C gene is maternally expressed, meaning the copy inherited from the mother is usually the active one while the paternal copy is largely silenced. Because of this imprinting, a mutation on the maternal allele has a greater impact on growth regulation and disease risk than a mutation on the paternal allele. Families with a known CDKN1C mutation should receive genetic counseling to understand the 50% chance of passing the maternal allele to offspring and the potential for variable expression depending on imprinting status.
Children with loss‑of‑function CDKN1C mutations (often seen in Beckwith‑Wiedemann) are at increased risk for overgrowth, macroglossia, and organomegaly, and they have a higher incidence of embryonal tumors such as Wilms tumor and hepatoblastoma. Regular surveillance—annual abdominal ultrasounds, serum alpha‑fetoprotein checks, and physical exams—is recommended. In contrast, gain‑of‑function mutations (seen in IMAGe syndrome) lead to intrauterine growth restriction and short stature, with a lower but still present risk for endocrine abnormalities and skeletal dysplasia.
There is currently no pharmacologic therapy that directly targets CDKN1C activity. Management focuses on monitoring growth parameters, screening for tumors, and addressing organ‑specific complications. Surgical intervention may be necessary for macroglossia, organomegaly, or tumor removal, but these are tailored to each patient’s presentation rather than the underlying gene defect.
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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