Identification of a point mutation in the SH3BP2 gene in cherubism

Cherubism is a rare genetic disorder and the majority of patients with cherubism are children. The aim of this study was to determine if analysis of mutations in the SH3BP2 gene using collected blood could distinguish cherubism from other similar diseases and might therefore replace the current extensive and invasive methods of diagnosis of cherubism with a minimally invasive method. Exon 9 of the SH3BP2 gene of a child with cherubism and of the child's parents was sequenced using PCR of the genomic DNA of collected leucocytes. The patient's lesions were analyzed radiographically. Biopsied lesions of the patient were histopathologically analyzed. The genomic DNA analysis indicated that the exon 9 sequence of the child and that of its mother, but not its father, was mutated. The combined radiographic and histopathological analyses suggested cherubism. In conclusion, sequencing of mutations in exon 9 of the SH3BP2 gene can diagnose cherubism and may therefore replace the combined extensive and more invasive methods previously required for such diagnosis.