The consequences of the Nesp truncation are, therefore, very similar to the NESP deletion mutations found in patients with AD-PHP-Ib described above (Bastepe et al., 2005; Chillambhi et al., 2010; Richard et al., 2012) and to the mouse Nesp deletion model (Fröhlich et al., 2010). Here, GNAS is linked to Alzheimer disease.