Among these symptoms are bone and cartilage dysplasia (Oostdijk et al., 2015), as well as androgen excess and polycystic ovary syndrome (PCOS) (Noordam et al., 2009; Oostdijk et al., 2015), all caused by point-mutations in the PAPSS2 gene encoding for the PAPS synthase 2 enzyme. The gene discussed is PAPSS2; the disease is polycystic ovary syndrome.