POU4F1

This gene encodes a neural transcription factor that regulates gene expression involved in neuronal differentiation, survival, and process outgrowth, with major developmental effects in somatosensory neurons and brainstem motor control nuclei. Mutations cause autosomal dominant sensorineural hearing loss (DFNA15), typically presenting in adulthood with progressive hearing impairment. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.