GNAQ and Prader-Willi syndrome: In 2013, Shirley and colleagues performed whole-genome sequencing (WGS) of DNA from 13 patients with non-syndromic PWS, discovered a non-synonymous mutation (c.548G > A, p.Arg183Gln) in the G protein subunit alpha q (GNAQ) gene, and defined this gene as a causative mutation of PWS (3).