The genetic spectrum of arNSHL in Chinese patients mainly includes mutations in GJB2, SLC26A4, MYO7A, POU3F4, USH2A and TMC1. Mutations in GJB2, followed by mutations in SLC26A4, are the most commonly identified cause of sensorineural hearing loss in Chinese patients [2]. The gene discussed is USH2A; the disease is sensorineural hearing loss disorder.