title: [Genetic aspects of cherubism].
abstract: BACKGROUND
  Cherubism is an extensive kystic process of the mandibula. The diagnosis is often established in children presented swelling of the jaws. The familial determinism of cherubism is well-known, and recently autosomal dominant cases have been described with detection of the exon 9 - SH3BP2 mutation.
  
  
  METHODS
  We describe the case of a 14-year-old boy with grade I cherubism diagnosed late. The familial genomic analyze conducted in Berlin was negative for the recently identified candidate gene.
  
  
  CONCLUSIONS
  Apart from dominant cases cherubism sometimes occurs sporadically, some of the cases resulting from a neomutation of the candidate gene. The present case with familial bone homeostasis and dental disorders is an argument for the recessive transmission hypothesis or for another candidate gene.
authors.affiliation: Service de Chirurgie Plastique et Maxillo-faciale, CHU de Grenoble. mBrix@chu-grenoble.fr
authors.forename: M
authors.initials: M
authors.lastname: Brix
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: E
authors.initials: E
authors.lastname: Ranfaing
authors.forename: B
authors.initials: B
authors.lastname: Ricbourg
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D002636:Cherubism / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D008335:Mandibular Condyle / Q000473:pathology; D008336:Mandibular Diseases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D018909:src Homology Domains / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human