2004; Unger et al. 2010). Inactivating mutations and deletions of CHST6, encoding a keratan 6-sulfotransferase expressed in the human cornea, have been associated with macular corneal dystrophy types I and II (Akama et al. 2000; Aldave et al. 2004). Loss-of-function mutations in CHST14, a dermatan 4-sulfotransferase, have been associated with Ehlers-Danlos syndrome musculocontractural type 1 (OMIM 601776) (Dündar et al. 2009). The gene discussed is CHST6; the disease is Ehlers-Danlos syndrome, musculocontractural type.