Genetic and molecular aspects of McCune-Albright syndrome

Steven A. Lietman, William F. Schwindinger, Michael A. Levine

Research output: Contribution to journalArticlepeer-review

Abstract

McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions and endocrinopathy (1,2) The molecular lesion in MAS is a postzygotic mutation in the GNAS gene that leads to activation of G sα, the alpha chain of the heterotrimeric G protein, G sα. Cells that carry the activating mutation are distributed in a mosaic pattern. A clinical diagnosis of MAS can be made when a patient is found to have at least two features of the classical triad (3). Because of the restricted pattern of distribution of the GNAS mutation, termed gsp, initial molecular analyses were limited to lesional tissue, but recent techniques such as peptide nucleic acid clamping have improved the sensitivity of current assays and now enable the detection of gsp mutations in circulating cells from many patients with MAS.

Original languageEnglish (US)
Pages (from-to)380-385
Number of pages6
JournalPediatric Endocrinology Reviews
Volume4
Issue numberSUPPL. 4
StatePublished - Aug 2007
Externally publishedYes

Keywords

  • Adenylyl cyclase
  • Cyclic AMP
  • G protein
  • McCune-Albright
  • Peptide nucleic acid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine

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