Recently, the missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 was reported to be associated with X-linked congenital nonsyndromic hearing loss with cochlear malformation (OMIM: #300914); indeed, all the male subjects in this family experienced severe-to-profound hearing loss at all frequencies tested (0.125 to 8 kHz). The gene discussed is COL4A6; the disease is hearing loss disorder.