Mitochondrial 12S rRNA Mutations
Mutations in the mitochondrial 12S rRNA/ MTRNR1 gene: M.1555A>G, M.961delT/insC, M.961T>G, M.1095T>C, and M.1494C>T have been found in some patients with aminoglycoside-induced hearing loss or hereditary non-syndromic sensorineural hearing loss. Among these, M.1555A>G is the most common mutation associated with aminoglycoside-induced hearing loss in the Asian population. This test does not rule out the possibility of low-level heteroplasmy for these mutations or some other mitochondrial mutations. This laboratory performs targeted mutation analysis.