[Gene mutation and expression of SH-3BP-2 in cherubism].
OBJECTIVE
To detect the mutation and expression of SH-3BP-2 in Chinese patients of cherubism and to investigate the possible relationship of gene mutation and multinucleated giant cells in lesions.


METHODS
Genomic DNA was extracted from paraffin-imbedded tissues and peripheral blood samples of 10 cases of cherubism (6 familial cherubism and 4 sporadic cherubism). SH-3BP-2 mutations were detected by PCR-direct sequencing. The nature of multinucleated giant cells in lesions was detected by enzyme histochemical staining and immunohistochemical staining using paraffin-imbedded tissues sections. The SH-3BP-2 protein was detected by immunohistochemical staining.


RESULTS
Three missense mutations (G1520A, G1505A, G1505C) in exon 9 of SH-3BP-2 were identified which led to 3 transitions (Gly420Glu, Arg415Gln, Arg415Pro). There were no abnormalities in exon 3 of SH-3BP-2 except 1 case which had not PCR products. The protein SH-3BP-2, the calcitonin receptor and the tartrate-resistant acid phosphatase were detected in the cytoplasm of all multinucleated giant cells and parts of monokaryon matrix cells in 8 paraffin-imbedded samples.


CONCLUSIONS
The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism.
Li
You-wei
YW
Department of Periodontics, College of Stomatology, Tianjin Medical University, Tianjin 300070, China.
Meng
Xue-mei
XM
Yu
Shi-feng
SF
Gao
Ping
P
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001483:Base Sequence; D002636:Cherubism / Q000235:genetics* / Q000378:metabolism; D015726:Giant Cells / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human