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: P F Perdigão, F J G S Pimenta, W H Castro, L De Marco, R S Gomez
• Journal: International journal of oral and maxillofacial surgery (Int J Oral Maxillofac Surg) Vol. 33 Issue 5 Pg. 498-501 (Jul 2004) ISSN: 0901-5027 [Print] Denmark
• PMID: 15183415 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• Cytosine
• GTP-Binding Protein alpha Subunits, Gs
• Thymine

Topics

• Adolescent
• Codon (genetics)
• Cytosine
• Female
• Fibrous Dysplasia, Monostotic (genetics)
• GTP-Binding Protein alpha Subunits, Gs (genetics)
• Heterozygote
• Humans
• Maxillary Diseases (genetics)
• Mutation, Missense (genetics)
• Thymine