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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-11-2015
Symbol CRBM
Location 4p16.3
Name cherubism
Other name(s) familial benign giant-cell tumor of the jaw
Corresponding gene SH3BP2
Main clinical features
  • proliferative lesions within the mandible and maxilla with loss of bone in the jaws and its replacement with large amounts of fibrous tissue, multinuceated giant cells
  • begins around the third or fourth year of life and progresses until the late teens
  • facial disfigurement, early tooth loss, failure of permanent tooth eruption, and distortion of the orbital socket creating an upturned eye appearance occasionally associated with blindness
  • at radiography, multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s) . mutations uncouple SH3BP2 from Tankyrase-mediated protein destruction, which results in its stabilization and subsequent hyperactivation of the SRC, SYK, and VAV signaling pathways (PMID: 22153076))
  • SH3BP2 cherubism mutation can cause jawbone destruction by promoting osteoclast formation in response to TNF-expressed in cherubism lesions (PMID: 24916406))