Further research is needed to understand the mechanisms responsible for Cherubism, as well as potential treatments.

Therefore afflicted fathers or mothers of children with Cherubism pass the phenotype to both daughters and sons.

The disease Cherubism is a rare autosomal dominant disease of the maxilla and mandible.

Yet children with Cherubism vary in severity in their maxilla and mandible bony lesions.

Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism.

A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.

SH3BP2 (SH3 domain-binding protein 2) is a protein associated with cherubism.

The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3.

Cherubism mutations in 3BP2 prevent binding of Tankyrase and therefore result in the accumulation of 3BP2 protein in the cell.

The amino acids mutated in cherubism coincide with precisely the region in 3BP2 that is recognized by Tankyrase, or the "Tankyrase binding motif."

Differential diagnosis to include: odontogenic keratocyst (OKC), ameloblastoma, odontogenic myxoma, hemangioma, central odontogenic fibroma, hyperparathyroid tumor, and cherubism.

The goal of Sicheri and his team was to uncover the exact mechanism by which Tankyrase recruits its substrates, to explain why cherubism mutations in 3BP2 disrupt Tankyrase binding and thereby learn more about how the enzyme works.

Initially intrigued by Tankyrase because of its involvement in cherubism (a rare genetic disorder caused by mutations in the signaling protein 3BP2), the researchers built upon the findings of Robert Rottapel's laboratory at the Ontario Cancer Institute.

Firstly, we obtained a visual snapshot of how Tankyrase recognizes its substrates and how mutations characteristic of cherubism lead to illness," said Sebastian Guettler, a post-doctoral Fellow in Sicheri's and Tony Pawson's labs at SLRI and first author of the study.