title: A novel mutation of the SH3BP2 gene in an aggressive case of cherubism.
abstract: 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.
authors: Department of Pharmacology, Universidade Federal de Minas Gerais, Avenida Antonio Carlos, 6627, Belo Horizonte, MG, Brazil.
authors: Vinicius Magalhães
authors: VM
authors: Carvalho
authors: Paôlla Freitas
authors: PF
authors: Perdigão
authors: Flávio Juliano
authors: FJ
authors: Pimenta
authors: Paulo Eduardo Alencar
authors: PE
authors: de Souza
authors: Ricardo Santiago
authors: RS
authors: Gomez
authors: Luiz
authors: L
authors: De Marco
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001483:Base Sequence; D002636:Cherubism / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018909:src Homology Domains
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human