SLITRK6

Deafness and myopia syndrome

At least three SLITRK6 gene mutations have been identified in people with deafness and myopia syndrome, a disorder that causes both hearing loss and severe nearsightedness (high myopia). The mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.