The ATOH c.1030delC mutation alters the end of the protein and lengthens it with a short new fragment. Laboratory experiments comparing the normal and mutant ATOH1 proteins revealed a significantly slower rate of degradation for the mutant compared to the normal protein. In mice, mutations in Atoh1 cause deafness. We hypothe that the human ATOH1 mutation increases the stability of the protein through decreased degradation, resulting in increased enhancement of its own expression. This longer expression of the protein in the ear may interfere with development of normal hair cells leading to hearing loss.
ATOH1