title: DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
abstract: A mutation of the SH3BP2 gene is known to cause cherubism. As there are clinical and histopathological similarities between central giant cell granuloma and cherubism, we made a constitutional DNA analysis of the SH3BP2 gene in four patients with aggressive giant cell granuloma (having one or more of the following features pain, paraesthesia, rapid growth, or root resorption). We found no mutations in the SH3BP2 gene, which indicates that cherubism is a separate entity. However, a somatic mutation in a specific group of cells could cause the focal lesions in giant cell granuloma. Further DNA analysis of the tissue of giant cell granulomas therefore seems indicated.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, The Netherlands.
authors.forename: Jan
authors.initials: J
authors.lastname: de Lange
authors.forename: Merel C
authors.initials: MC
authors.lastname: van Maarle
authors.forename: Hans P
authors.initials: HP
authors.lastname: van den Akker
authors.forename: Egbert J W
authors.initials: EJ
authors.lastname: Redeker
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002636:Cherubism / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006101:Granuloma, Giant Cell / Q000097:blood / Q000235:genetics*; D006801:Humans; D007571:Jaw Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human