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NSD1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NSD1 gene

The NSD1 gene encodes a histone methyltransferase that regulates growth and development; mutations in this gene cause Sotos syndrome and are implicated in certain cancers.

Normal Function

The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes and can turn them on and off as needed. The NSD1 enzyme controls the activity of genes involved in normal growth and development, although most of these genes have not been identified.

Health Conditions Related to Genetic Changes

Sotos syndrome

More than 380 mutations in the NSD1 gene have been identified in people with Sotos syndrome. The most common mutation in the Japanese population deletes genetic material from the region of chromosome 5 that contains the NSD1 gene. In most other populations, mutations within the gene itself are more frequent. These mutations include insertions or deletions of a small amount of DNA and changes in single DNA building blocks (base pairs) that make up the gene. Most mutations prevent one copy of the NSD1 gene from making any enzyme or lead to the production of an abnormally small, nonfunctional version of the enzyme. Research suggests that a reduced amount of the NSD1 enzyme disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this enzyme during development leads to overgrowth, learning disabilities, and the other signs and symptoms of Sotos syndrome.

Cancers

A change involving the NSD1 gene is associated with a blood cancer called childhood acute myeloid leukemia. This change occurs when part of chromosome 5 breaks off and reattaches to part of chromosome 11. This change is acquired during a person's lifetime and is present only in cancer cells. This type of genetic change, called a somatic mutation, is not inherited. The rearrangement of genetic material involved in childhood acute myeloid leukemia, known as a translocation, abnormally fuses the NSD1 gene on chromosome 5 with the NUP98 gene on chromosome 11. Research shows that the fused NUP98-NSD1 gene turns on genes that promote the growth of immature blood cells and blocks processes that would turn the genes off. The resulting overgrowth of these immature cells leads to development of acute myeloid leukemia.

A different type of alteration involving the NSD1 gene is associated with a cancer of nerve tissue called neuroblastoma and a type of brain cancer called glioma. This alteration, known as promoter hypermethylation, turns off the production of the NSD1 enzyme. Researchers speculate that without NSD1, the activity of one or more genes involved in cell growth and division is uncontrolled. As a result, the cells can grow and divide unchecked, leading to the development of cancer.

Other Names for This Gene

  • androgen receptor-associated coregulator 267
  • ARA267
  • histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
  • NR-binding SET domain containing protein
  • NSD1_HUMAN
  • nuclear receptor-binding Su-var, Enhancer of zeste and Trith

Frequently Asked Questions

Early comprehensive evaluation by a developmental pediatrician or neuropsychologist is essential. This should include standardized testing of language, motor, and cognitive skills, as well as audiology and vision screening. Ongoing assessments every 1–2 years help tailor educational interventions and speech/occupational therapy.
Some NSD1 alterations have been linked to certain malignancies (e.g., neuroblastoma), but the overall cancer risk in Sotos syndrome remains low. Routine pediatric cancer screening is not required beyond standard age‑appropriate guidelines, though clinicians should maintain vigilance for unusual masses or persistent fevers and refer promptly for evaluation.
Testing typically involves a blood sample for sequencing or deletion/duplication analysis of the NSD1 gene. Results may reveal a pathogenic point mutation, a microdeletion encompassing NSD1, or a variant of uncertain significance. Pre‑test counseling should cover the possibility of incidental findings, the implications of a positive result for future pregnancies, and the option of carrier testing for parents.
Sotos syndrome results from loss‑of‑function mutations in the NSD1 histone‑methyltransferase, which disrupts regulation of growth‑related genes, leading to tall stature and macrocephaly. While rapid growth itself is not harmful, regular monitoring of height, weight, and orthopedic development is advised; endocrinology referral is considered if growth becomes extreme or if there are associated hormonal issues.
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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