The Use of Real Time PCR Genotyping to Detect Activating GNAS Mutations in McCune-Albright Syndrome

Abstract

Introduction: The McCune-Albright syndrome (MAS) is a genetic disease clinically characterized by the triad: bone fibrous dysplasia café-au-lait skin spots and endocrine hyperfunction, such as precocious puberty. MAS is due to activating mutations of GNAS, the gene encoding Gs alpha and mutations analysis of this gene could increase the definitive diagnosis of MAS and atypical and partial.