Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss

This study reveals that dominant and recessive variants in ATOH1, a key transcription factor for hindbrain and mechanosensory development, cause distinct syndromes. Dominant C-terminal truncating variants induce a recognizable hindbrain malformation, mild motor symptoms, and hearing loss, while recessive loss-of-function variants cause a severe neurodevelopmental disorder with profound hearing loss.