SH3BP2 gene. Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.

SH3BP2) gene on chromosome 4. The protein encoded by SH3BP2 is important for bone metabolism and remodeling. Researchers believe that SH3BP2 mutations lead to an overly active version of the protein that alters critical signaling pathways in cells associated with the maintenance of bone tissue and in certain immune system cells. The overactive protein may cause inflammation in the bones of the jaw, triggering the production of too many osteoclasts (the cells that repair bone). Too many of these cells contribute to the abnormal breakdown of bone tissue in the upper and lower jaw. A combination of bone loss and inflammation likely leads to the cyst-like growths seen in cherubism.

About 80% of people with cherubism have a mutation in the SH3BP2 gene. The cause of the condition in the remaining 20% of cases remains unknown.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. The proportion of cases of cherubism caused by de novo mutation is unknown since variable expressivity and reduced penetrance are observed in this condition.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

SH3BP2, the gene that has been identified in about 80 percent of people with cherubism. Even if a person tests negative for disease-causing mutations in the SH3BP2 gene, a genetic cause is still likely. At this time, the other gene(s) that may be associated with cherubism have not been identified; therefore, genetic testing is unavailable.