A novel mutation of the SH3BP2 gene in an aggressive case of cherubism

Summary Cherubism is an autosomal dominant inherited syndrome characterized by excessive bone degradation of upper and lower jaw and its replacement with large amounts of fibrous tissue, which causes a characteristic facial swelling. A correlation with a mutation in the gene SH3BP2 has been previous...

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Bibliographic Details
Published in:Oral oncology 2008-02, Vol.44 (2), p.153-155
Main Authors: Carvalho, Vinicius Magalhães, Perdigão, Paôlla Freitas, Pimenta, Flávio Juliano, de Souza, Paulo Eduardo Alencar, Gomez, Ricardo Santiago, De Marco, Luiz
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Base Sequence
Biological and medical sciences
Cherubism
Cherubism - genetics
Child
Diseases of the osteoarticular system
DNA Mutational Analysis
Hematology, Oncology and Palliative Medicine
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Molecular Sequence Data
Mutation
Otolaryngology
Otorhinolaryngology. Stomatology
Pleckstrin homology domain
SH3BP2
src Homology Domains
Tumors
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Summary:Summary Cherubism is an autosomal dominant inherited syndrome characterized by excessive bone degradation of upper and lower jaw and its replacement with large amounts of fibrous tissue, which causes a characteristic facial swelling. A correlation with a mutation in the gene SH3BP2 has been previously demonstrated, but a model for its pathogenesis is not yet available. Here we describe a novel mutation in an aggressive case of cherubism located in the pleckstrin homology domain (PH) of the SH3BP2.
ISSN:1368-8375
1879-0593
DOI:10.1016/j.oraloncology.2007.01.012