Table 1.
Types of Connexin26 (Cx26) and Cx30 human mutations and their possible treatment windows and outcomes by cochlear gene therapy.
Type of hearing loss | Mutation examples | Possible time window of treatment | Possible outcome |
---|---|---|---|
Late onset of mild hearing loss | Cx26: V37I, M34T, C202F, etc., Cx30: M203V, etc., | Broad time window, possibly even after onset of hearing loss. | Complete recovery. |
Syndromic hearing loss | Cx26: D66H, Y65H, G59A, G45E, D50N, H73R and N54K, etc., Cx30: G11R, A88V, etc., | Embryonic (before W20)/early postnatal, likely need to be before the manifestation of hearing loss. | Uncertain treatment efficacy based on mouse model studies. |
Non-syndromic hearing loss | Cx26: 35delG, 167delT, W44S, R75W, and R75Q, etc., Cx30: T5M, 342-KB DEL, etc., | Embryonic (before W20)/Postnatal treatment needed. | Partial recovery of hearing. However, treatment benefit vs. risk is debatable. |