Mutations in SLC26A2 cause diastrophic dysplasia, achondrogenesis 1B, and atelosteogenesis type 2 (Table 5; Hästbacka et al., 1994, 1996; Superti-Furga et al., 1996; Rossi and Superti-Furga, 2001). The gene discussed is SLC26A2; the disease is diastrophic dysplasia.