Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.△1838–1849 (p.Δ613–616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD. The gene discussed is TGFBI; the disease is cerebral creatine deficiency syndrome.