home | cave | literatur | links | login | impressum |
International Journal of Oral and Maxillofacial Surgery, 33(5), 498–501 (2004), DOI:10.1016/j.ijom.2003.10.016
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 α subunit of stimulatory G protein (GSα) 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 GSα gene, demonstrating a heterozygous missense mutation on codon 201 (201C→T). Due to the high prevalence of GSα 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.
back