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.
journal_name
Int J Oral Maxillofac Surgjournal_title
International journal of oral and maxillofacial surgeryauthors
Teixeira RC,Horz HP,Damante JH,Garlet GP,Santos CF,Nogueira RL,Cavalcante RB,Conrads Gdoi
10.1016/j.ijom.2011.04.003subject
Has Abstractpub_date
2011-08-01 00:00:00pages
851-5issue
8eissn
0901-5027issn
1399-0020pii
S0901-5027(11)00161-5journal_volume
40pub_type
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journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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