JaLCDOI 10.18926/AMO/30977
FullText URL fulltext.pdf
Author Lee, Ji-Young| Jung, Yang-Seok| Kim, Soo-A| Lee, Sang-Ho| Ahn, Sang-Gun| Yoon, Jung-Hoon|
Abstract <p>Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients. In this study, we examined a 6-year-old Korean boy and his family. We found a Pro418Arg mutation in the SH3BP2 gene of the patient and his mother. A father and his 30-month-old younger brother had no mutations. Immunohistochemically, the multinucleated giant cells proved positive for CD68 and tartrate-resistant acid phosphatase (TRAP). Numerous spindle-shaped stromal cells expressed a ligand for receptor activator of nuclear factor kB (RANKL), but not in multinucleated giant cells. These results provide evidence that RANKL plays a critical role in the differentiation of osteoclast precursor cells to multinucleated giant cells in cherubism. Additionally, genetic analysis may be a useful method for differentiation of cherubism.</p>
Keywords cherubism SH3BP2 CD68 TRAP RANKL
Amo Type Case Report
Published Date 2008-06
Publication Title Acta Medica Okayama
Volume volume62
Issue issue3
Publisher Okayama University Medical School
Start Page 209
End Page 212
ISSN 0386-300X
NCID AA00508441
Content Type Journal Article
language 英語
File Version publisher
Refereed True
PubMed ID 18596838
Web of Science KeyUT 000257130300009