What is the role of genetics in the etiology of McCune-Albright syndrome?

Updated: Jan 17, 2019
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Answer

MAS has been shown to be due to a postzygotic activating mutation of the GNAS gene, coding for the G protein subunit Gs alpha in the affected tissues (see Pathophysiology and Etiology). For semantic reasons, it is important to differentiate MAS from Albright hereditary osteodystrophy (AHO). AHO, which also is caused by a GNAS1 gene defect, [15] results in pseudohypoparathyroidism or pseudopseudohypoparathyroidism. [16]


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