Loss-of-function mutations in PAPSS2 are associated with autosomal-recessive forms of brachyolmia, a heterogeneous group of skeletal dysplasias, including the Hobaek (OMIM 271530) and Toledo (OMIM 271630) types (Miyake et al., 2012; Iida et al., 2013). The gene discussed is PAPSS2; the disease is skeletal dysplasia.