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DICER1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DICER1 gene

The DICER1 gene provides instructions for a protein that regulates gene activity by producing microRNA, which is essential for cell growth and maturation.

Normal Function

The DICER1 gene provides instructions for making a protein that plays a role in regulating the activity (expression) of other genes. The Dicer protein aids in the production of a molecule called microRNA (miRNA). MicroRNAs are short lengths of RNA, a chemical cousin of DNA. Dicer cuts (cleaves) precursor RNA molecules to produce miRNA.

MicroRNAs control gene expression by blocking the process of protein production. In the first step of making a protein from a gene, another type of RNA called messenger RNA (mRNA) is formed and acts as the blueprint for protein production. MicroRNAs attach to specific mRNA molecules and stop the process by which protein is made. Sometimes, miRNAs break down the mRNA, which also blocks protein production. Through this role in regulating the expression of genes, Dicer is involved in many processes, including cell growth and division (proliferation) and the maturation of cells to take on specialized functions (differentiation).

Health Conditions Related to Genetic Changes

DICER1 syndrome

Mutations in the DICER1 gene cause DICER1 syndrome. People with this condition have an increased risk of developing many types of tumors, particularly certain tumors of the lungs (pleuropulmonary blastoma); kidneys (cystic nephroma); ovaries (Sertoli-Leydig tumors); and thyroid, a butterfly-shaped gland in the lower neck (multinodular goiter). Most of these mutations lead to an abnormally short Dicer protein that is likely unable to produce miRNA. Without regulation by miRNA, genes are expressed abnormally, which could cause cells to grow and divide uncontrollably and lead to tumor formation.

Other Names for This Gene

  • DCR1
  • Dicer
  • dicer 1 ribonuclease III
  • dicer 1, double-stranded RNA-specific endoribonuclease
  • dicer 1, ribonuclease type III
  • Dicer1, Dcr-1 homolog
  • DICER_HUMAN
  • endoribonuclease Dicer
  • helicase MOI
  • helicase with RNAse motif
  • helicase-moi
  • HERNA
  • K12H4.8-LIKE
  • KIAA0928
  • MNG1

Frequently Asked Questions

Surveillance typically begins in infancy and continues into adulthood, focusing on the organs most susceptible to tumors. This usually includes annual or biennial abdominal ultrasounds to monitor the kidneys and liver, and periodic thyroid ultrasounds to check for multinodular goiter. For females, ovarian ultrasounds may be recommended to screen for Sertoli-Leydig cell tumors. Lung screening is more complex; while chest X-rays or CT scans may be used, the frequency depends on age and risk factors. It is crucial to follow a protocol established by a multidisciplinary team, as the timing and type of imaging can change as the patient ages and the risk profile shifts.
In children, DICER1 syndrome often presents with specific tumor types rather than general symptoms. The most common early manifestation is pleuropulmonary blastoma (PPB), a rare lung tumor, which may cause respiratory distress, coughing, or chest pain. In the kidneys, cystic nephromas may be detected incidentally during imaging for other issues or present with abdominal swelling. Because these tumors can be asymptomatic in early stages, regular surveillance imaging is critical for known carriers. Parents should be vigilant for unexplained breathing difficulties, persistent cough, or abdominal distension, but the primary diagnostic tool is genetic testing followed by scheduled monitoring rather than waiting for symptoms to appear.
DICER1 syndrome can be inherited in an autosomal dominant pattern, meaning a child of an affected parent has a 50 percent chance of inheriting the mutation. However, many cases arise from new (de novo) mutations in the affected individual, with no family history. If a child is diagnosed, it is standard practice to offer genetic testing to both parents. If a parent tests positive, other siblings and children may be at risk. If both parents test negative, the mutation likely occurred spontaneously in the child, and the risk to siblings is very low, though not zero due to potential germline mosaicism in a parent.
While the primary concern with DICER1 syndrome is the increased risk of multiple tumor types, most of these tumors are benign or low-grade malignancies that are treatable. However, the recurrence rate can be significant, requiring long-term monitoring. Some individuals may experience thyroid dysfunction due to multinodular goiter, which can be managed with medication or surgery. Life expectancy for individuals with DICER1 syndrome is generally good, especially with early detection and treatment of tumors. The focus of care is on managing the risk of new tumor development and treating any that arise promptly, rather than a progressive degenerative condition.
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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