DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
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.
de Lange
Jan
J
Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, The Netherlands.
van Maarle
Merel C
MC
van den Akker
Hans P
HP
Redeker
Egbert J W
EJ
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
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human