Site-specific mutations in COL1A1, GJC3, RRM2B, SALL4, and SALL1 cause otosclerosis ([MIM:120150]), delayed hearing sensitivity ([MIM:611925]), sensorineural deafness ([MIM: 604712]), hearing loss ([MIM:607343]) and ear dysplasia ([MIM:602218]), among other deafness-related disorders. The gene discussed is COL1A1; the disease is otosclerosis.