Epigenetic Defects of<i>GNAS</i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

Abstract

Our investigations indicate that an overlap may exist between molecular and clinical features of PHP-Ia and PHP-Ib. No current mechanisms can explain the AHO-like features of our patients, some of which may not be linked to GNAS. Therefore, patients with hormone resistance and AHO-like features in whom coding Gsalpha mutations have been excluded should be evaluated for epigenetic alterations within GNAS.