An important recent finding regarding the long and short Gsα forms is that, for the first time, an inactivating mutation in exon 3 has been identified in a patient with pseudohypoparathyroidism type-Ia [34], a disorder known to be caused by inactivating mutations in Gsα-coding GNAS exons (see below). The gene discussed is GNAS; the disease is pseudohypoparathyroidism type 1A.