To date, mutations in seven genes (COL2A1 [4], COL11A1 [5], COL11A2 [6], COL9A1 [7], COL9A2 [8], COL9A3 [9], and LOXL3 [10]) have been reported to cause Stickler syndrome. The gene discussed is COL9A3; the disease is Stickler syndrome.