The gene for cherubism maps to chromosome 4p16

Cherubism is an autosomal dominant disorder that may be related to tooth de velopment and eruption. It is a disorder of age-related bone remodeling, mo stly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a g enomewide search with a three-generation family and have established linkag e to chromosome 4p16. Three other families affected with cherubism were als o genotyped and were mapped to the same locus. The combined LOD score is 4. 21 at a recombination fraction of 0, and the locus spans an interval of sim ilar to 22 cM.