Investigation of the GSalpha gene in the diagnosis of fibrous dysplasia.
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.
Perdigão
P F
PF
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Pimenta
F J G S
FJ
Castro
W H
WH
De Marco
L
L
Gomez
R S
RS
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
D003062:Codon; D003596:Cytosine; D019205:GTP-Binding Protein alpha Subunits, Gs; D013941:Thymine