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MeSH Review

Cherubism

 
 
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Disease relevance of Cherubism

 

High impact information on Cherubism

  • Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism [2].
  • Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling [2].
  • Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism [3].
  • Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism [4].
  • Craniosynostosis in cherubism [4].
 

Biological context of Cherubism

 

Gene context of Cherubism

  • The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels [6].
  • Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism [7].
 

Analytical, diagnostic and therapeutic context of Cherubism

References

  1. Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Quan, F., Grompe, M., Jakobs, P., Popovich, B.W. Hum. Mol. Genet. (1995) [Pubmed]
  2. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J.B., Kreiborg, S., Olsen, B.R., Reichenberger, E. Nat. Genet. (2001) [Pubmed]
  3. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Jafarov, T., Ferimazova, N., Reichenberger, E. Clin. Genet. (2005) [Pubmed]
  4. Craniosynostosis in cherubism. Stiller, M., Urban, M., Golder, W., Tiziani, V., Reichenberger, E., Frege, J., Opitz, C., Peters, H. Am. J. Med. Genet. (2000) [Pubmed]
  5. Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function. Miah, S.M., Hatani, T., Qu, X., Yamamura, H., Sada, K. Genes Cells (2004) [Pubmed]
  6. Study of the cell biology and biochemistry of cherubism. Southgate, J., Sarma, U., Townend, J.V., Barron, J., Flanagan, A.M. J. Clin. Pathol. (1998) [Pubmed]
  7. Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. Mangion, J., Edkins, S., Goss, A.N., Stratton, M.R., Flanagan, A.M. J. Med. Genet. (2000) [Pubmed]
  8. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.C., Teebi, A.S. Am. J. Med. Genet. A (2003) [Pubmed]
 
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