Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.

PURPOSE OF REVIEW: Neurogenetic disorders associated with hearing loss represent a rapidly expanding field, with recent gene discoveries revealing convergent mechanistic themes affecting both the nervous and auditory systems. Collectively, these findings highlight shared vulnerabilities of neural and auditory tissues. We summarize gene discoveries from 2021 to 2025, moving beyond classic syndromes to highlight newly implicated genes within mechanistic categories and discuss their implications for diagnosis, counseling, and therapeutic development. RECENT FINDINGS: We describe 38 genes with combined neurodevelopmental and auditory phenotypes, providing an updated view of the field. We explore common developmental pathways and, when possible, propose explanations for the variable expression of hearing impairment observed across disorders. A deeper understanding of the mechanisms linking the nervous and auditory systems is essential for clarifying the pathogenesis of auditory syndromes. The emerging picture underscores that hearing loss can serve as an early marker of systemic neurogenetic disease that may offer a window of opportunity for timely intervention.