Mitochondrial Nonsyndromic Hearing Loss

Gene (OMIM)Key Gene References (PubMed)
Evidence (ClinGen)
MT-RNR1 (see note 1)Prezant et al., 1993not reviewed
MT-CO1 (see note 1, note 2)Reid et al., 1994not reviewed
MT-TS1 (see note 1)Reid et al., 1994not reviewed
MT-ND1Lévêque et al., 2007not reviewed
MT-TS2Lévêque et al., 2007not reviewed
MT-THYan et al., 2011not reviewed
MT-TIGutiérrez Cortés et al., 2012not reviewed
MT-TL1Mori et al., 2016not reviewed
MT-TKMori et al., 2016not reviewed

Note 1: Certain MT-RNR1, MT-CO1, and MT-TS1 variants are associated with susceptibility to aminoglycoside otoxicity that causes permanent hearing loss (Usami and Nishio, 2004).

Note 2: MT-CO1 variants at the border with MT-TS1 have been associated with nonsyndromic hearing loss (Reid et al., 1994; Pandya et al., 1999).