SH3BP2 mutations and their expression in Chinese people with cherubism

Objective: To detect SH3BP2 mutations and their mRNA expression in Chinese people with cherubism Methods: SH3BP2mutation genotypes were detected in 5 familial and sporadic cases of cherubism by DNA sequencing . The location of SH3BP2 mRNA was detected in frozen tissue sections by in situ hybridization method. Results: Missense mutation C/G in exon 9 of SH3BP2 gene for cherubism was found in Chinese people, and the genotypes did not correlate with those patients'phenotypes; SH3BP2 mRNA was expressed in multinucleated giant cells and some monocytes. Conclusion: SH3BP2 played its important role in the formation of multinucleated giant cells and the pathogenesis of Cherubism.