SH3BP2 Gene Sequencing

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • To differentiate Cherubism from other disorders with cystic jaw lesions (as described above)
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutation
  • Capillary Sequencing


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes


  • 526.89 Other Cherubism Fibrous dysplasia of jaw(s), Latent bone cyst of jaw(s), Osteoradionecrosis of jaw(s), Unilateral condylar hyperplasia or hypoplasia of mandible
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  1. Pina-Nito, J.M. et al. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet. 25: 433-41, 1986
  2. van Capelle, C.I. et al. Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr. 166: 905-9, 2007
  3. Martinez-Tello, F.J. et al. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol. 34: 793-8, 2005
  4. Anderson, D.E. and McClendon J.L., Cherubismhereditary fibrous dysplasia of the jaws; I genetic considerations. Oral Surg Oral Med Oral Pathol. 15 Suppl 2: 5- 16, 1962
  5. Peters, W.J., Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol. 47: 307-11, 1979
  6. Lietman, S.A. et al., Identification of a Novel Mutation of SH3BP2 in Cherubism and Demonstration that SH3BP2 Mutations Lead to Increased BFAT Activation. Hum Mutat. 27:717-8, 2006
  7. Ueki, Y. et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 28:125-125, 2001
  8. de Lange, J. et al., A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Path Oral Radiol Endod. 103:378-81, 2007
  9. Li, Cui Ying and Yu, Shi Feng, A novel mutation in the SH3BP2 gene causes cherubism: case report BMC Med Genet. 7: 84, 2006
  10. Imai, Y. et al., A Missense Mutation in the SH3BP2 Gene on Chromosome 4p16.3 Found in a Case of Nonfamilial Cherubism. Cleft Palate Craniofac J. 40:632-8, 2003
  11. Lo, B. et al., Novel mutation in the gene encoding c-Abl binding protein SH3BP2 causes cherubism. Am J Med Genet A. 121:37-40, 2003