title: SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma.
abstract: Central giant cell granuloma (CGCG) is a benign lesion with unpredictable biological behaviour ranging from a slow-growing asymptomatic swelling to an aggressive lesion associated with pain, bone and root resorption and also tooth displacement. The aetiology of the disease is unclear with controversies in the literature on whether it is mainly of reactional, inflammatory, infectious, neoplasic or genetic origin. To test the hypothesis that mutations in the SH3BP2 gene, as the principal cause of cherubism, are also responsible for, or at least associated with, giant cell lesions, 30 patients with CGCG were recruited for this study and subjected to analysis of germ line and/or somatic alterations. In the blood samples of nine patients, one codon alteration in exon 4 was found, but this alteration did not lead to changes at the amino acid level. In conclusion, if a primary genetic defect is the cause for CGCG it is either located in SH3BP2 gene exons not yet related to cherubism or in a different gene.
authors.affiliation: Division of Oral Microbiology and Immunology, Department of Operative and Preventive Dentistry & Periodontology, Medical Faculty, RWTH Aachen University, Aachen, Germany. rena@usp.br
authors.forename: R C
authors.initials: RC
authors.lastname: Teixeira
authors.forename: H P
authors.initials: HP
authors.lastname: Horz
authors.forename: J H
authors.initials: JH
authors.lastname: Damante
authors.forename: G P
authors.initials: GP
authors.lastname: Garlet
authors.forename: C F
authors.initials: CF
authors.lastname: Santos
authors.forename: R L M
authors.initials: RL
authors.lastname: Nogueira
authors.forename: R B
authors.initials: RB
authors.lastname: Cavalcante
authors.forename: G
authors.initials: G
authors.lastname: Conrads
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002636:Cherubism / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006101:Granuloma, Giant Cell / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008336:Mandibular Diseases / Q000235:genetics; D008439:Maxillary Diseases / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013941:Thymine; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003062:Codon; C109073:SH3BP2 protein, human; D006639:Histidine; D003596:Cytosine; D013941:Thymine