SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma.
Int J Oral Maxillofac Surg
; 40(8): 851-5, 2011 Aug.
Article
em En
| MEDLINE
| ID: mdl-21680150
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Querubismo
/
Granuloma de Células Gigantes
/
Éxons
/
Proteínas Adaptadoras de Transdução de Sinal
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Int J Oral Maxillofac Surg
Assunto da revista:
ODONTOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Alemanha