A Novel GNAS1 Mutation, R201G, in McCune–Albright Syndrome

Abstract excerpt

Activating missense mutations of the GNAS1 gene, encoding the alpha subunit of the stimulatory G protein, Gs, have been identified in patients with the McCune–Albright syndrome (MAS, characterized by polyostotic fibrous dysplasia [FD], café au lait skin pigmentation, and endocrine disorders).1-3 The reduced GTPase activity of the mutated protein leads to overstimulation of adenylyl cyclase.4 Recent studies on the...

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