NSD2

The NSD2 gene is located in a region of chromosome 4 that is deleted in people with Wolf-Hirschhorn syndrome. The features of this condition include  a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

As a result of this deletion in chromosome 4, affected individuals are missing one copy of the NSD2 gene in each cell. A loss of the NSD2 gene probably disrupts the regulation of several other genes, although these genes have not been identified. Research shows that abnormal gene regulation during development contributes to some of the features of Wolf-Hirschhorn syndrome.

A chromosomal rearrangement (translocation) involving the NSD2 gene has been associated with multiple myeloma, a cancer that starts in bone marrow cells. This rearrangement is found in 15 to 20 percent of all multiple myelomas. The translocation abnormally fuses the NSD2 gene on chromosome 4 with part of another gene on chromosome 14. The fusion of these genes overactivates the NSD2 gene, which appears to promote the uncontrolled growth and division of cancer cells.