EZH2

More than 30 EZH2 gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin; and a small lower jaw (micrognathia). Some affected individuals have a large head size (macrocephaly). Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in the EZH2 enzyme; others insert or delete small amounts of genetic material from the EZH2 gene, leading to production of an altered EZH2 enzyme. It is unclear how these EZH2 gene mutations result in the abnormalities characteristic of Weaver syndrome.

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Changes in the EZH2 gene have been associated with various types of cancers. Mutations of this gene have been identified in cancers of blood-forming tissues (lymphomas and leukemias). These mutations are described as "gain-of-function" because they appear to enhance the activity of the EZH2 enzyme or give the enzyme a new, atypical function. In addition, excessive activity (overexpression) of the EZH2 gene has been identified in cancerous tumors of the prostate, breast, and other parts of the body. Changes involving the EZH2 gene likely impair normal control of cell division (proliferation), allowing cells to grow and divide too fast or in an uncontrolled way and leading to the development of cancer.