A novel mutation of the SH3BP2 gene in an aggressive case of cherubism.
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.
Carvalho
Vinicius Magalhães
VM
Department of Pharmacology, Universidade Federal de Minas Gerais, Avenida Antonio Carlos, 6627, Belo Horizonte, MG, Brazil.
Perdigão
Paôlla Freitas
PF
Pimenta
Flávio Juliano
FJ
de Souza
Paulo Eduardo Alencar
PE
Gomez
Ricardo Santiago
RS
De Marco
Luiz
L
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
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human