The gene for cherubism maps to chromosome 4p16.3

The gene for cherubism, a rare familial childhood disease that results in prominence of the lower face and a somewhat cherubic look, based on Renaissance art, has been found to map to chromosome 4p16.3. The gene is in a 3-cM interval between D4S127 (ital) and 4p-telomere with a strong candidate the gene for fibroblast growth factor receptor 3 (FGR3(ital)). A genomewide linkage search has been carried out using two families with radiologically, clinically and/or histologically confirmed cherubism. Many cases are inherited autosomal dominantly, but there are cases where no family history has been reported.