Cherubism 환자에서 SH3BP2 유전자 돌연변이

Abstract

Cherubism is a rare autosomal dominant inherited condition caused by mutations in the c-Abl-binding protein SH3BP2. It is characterized by multiple cystic giant cell lesions of the jaw appearing in early childhood with stabilization and remission after puberty. In the present study, genomic DNA was purified from a blood sample obtained from the patient and parents and used for direct sequence analysis of the SH3BP2 gene. In addition, a sample of the lesion was used for histologic and immunohistochemical purposes. Histology revealed a proliferation of spindle shaped fibroblastic cells and irregulary dispersed multinucleated giant cells. The multinucleated giant cells proved positive for CD68 and TRAP. Genomic DNA sequencing found a missense mutation Pro418Arg in exon 9 of the SH3BP2 gene of the patient and the mother. Therefore, the multinucleated giant cells are basically osteoclastic in nature. Additionally, as the Pro418Arg mutation had been reported as causing cherubism, it represents a mutational hotspot.