For example, heterozygous mutations, including PROKR2 c.254G>A;p.R85H (rs74315418), c.253C>G;p.R85G (rs141090506), and c.254G>T;p.R85L (rs74315418), have all been identified in association with pituitary stalk interruption and combined pituitary hormone deficiencies (21, 22). The gene discussed is PROKR2; the disease is hypopituitarism.