Investigation of the GSalpha gene in the diagnosis of fibrous dysplasia.

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. -->
Substance Nomenclature: 0 (Codon)
8J337D1HZY (Cytosine)
EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
QR26YLT7LT (Thymine)
Entry Date(s): Date Created: 20040609 Date Completed: 20040920 Latest Revision: 20131121
Update Code: 20231215
DOI: 10.1016/j.ijom.2003.10.016
PMID: 15183415
Autor: Perdigão PF; Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Pimenta FJ, Castro WH, De Marco L, Gomez RS
Jazyk: angličtina
Zdroj: International journal of oral and maxillofacial surgery [Int J Oral Maxillofac Surg] 2004 Jul; Vol. 33 (5), pp. 498-501.
DOI: 10.1016/j.ijom.2003.10.016
Abstrakt: 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.
Databáze: MEDLINE
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