title: Investigation of the GSalpha gene in the diagnosis of fibrous dysplasia.
abstract: Fibrous dysplasia is a benign fibro-osseous disease of bone and its etiology has been previously established. Activating mutations in the gene that encodes the alpha subunit of stimulatory G protein (G(S)alpha) has been described in monostotic and polyostotic fibrous dysplasia and in the McCune-Albright syndrome. The present report describes a patient with monostotic fibrous dysplasia which diagnosis was confirmed by sequencing of the G(S)alpha gene, demonstrating a heterozygous missense mutation on codon 201 (201C --> T). Due to the high prevalence of G(S)alpha gene mutations in fibrous dysplasia in contrast to other benign and malignant fibrous-osseous lesions, mutational analysis are an additional and helpful parameter for the diagnosis of fibrous dysplasia in selected cases.
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: P F
authors.initials: PF
authors.lastname: Perdigão
authors.forename: F J G S
authors.initials: FJ
authors.lastname: Pimenta
authors.forename: W H
authors.initials: WH
authors.lastname: Castro
authors.forename: L
authors.initials: L
authors.lastname: De Marco
authors.forename: R S
authors.initials: RS
authors.lastname: Gomez
mesh_terms: D000293:Adolescent; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005260:Female; D005358:Fibrous Dysplasia, Monostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008439:Maxillary Diseases / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D013941:Thymine
chemical_list: D003062:Codon; D003596:Cytosine; D019205:GTP-Binding Protein alpha Subunits, Gs; D013941:Thymine