Type I Stickler syndrome (STL1) is associated with mutations in the COL2A1 gene encoding type II collagen[5], while mutations in COL11A1 and COL11A2 encoding type XI collagen, are associated with type II (STL2)[6] and type III Stickler syndrome (STL3)[7] respectively. The gene discussed is COL11A1; the disease is Stickler syndrome type 1.