JaLCDOI 10.18926/AMO/30977
フルテキストURL fulltext.pdf
著者 Lee, Ji-Young| Jung, Yang-Seok| Kim, Soo-A| Lee, Sang-Ho| Ahn, Sang-Gun| Yoon, Jung-Hoon|
抄録 <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>
キーワード cherubism SH3BP2 CD68 TRAP RANKL
Amo Type Case Report
発行日 2008-06
出版物タイトル Acta Medica Okayama
62巻
3号
出版者 Okayama University Medical School
開始ページ 209
終了ページ 212
ISSN 0386-300X
NCID AA00508441
資料タイプ 学術雑誌論文
言語 English
論文のバージョン publisher
査読 有り
PubMed ID 18596838
Web of Sience KeyUT 000257130300009