Abstract
BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) encompasses a range of hearing impairments caused by disrupted sound transmission from the cochlea to the brain. The atypical symptoms or signs of ANSD often complicate both diagnosis and treatment. To improve the identification of lesion sites and gain insights into the disease mechanisms, we employed next-generation sequencing (NGS) to detect mutations in ANSD-related genes. METHODS: We studied 23 patients with ANSD from non-consanguineous Chinese families. Clinical data were collected and analyzed from medical records. Genomic DNA was extracted from blood samples, followed by whole-exome capture, NGS, and confirmation through bidirectional Sanger sequencing. RESULTS: Based on ANSD classification, 10 patients had non-syndromic (NS) ANSD, 7 had syndromic peripheral neuropathy, and 6 had syndromic central neuropathy. Thirteen novel variants (8 missense variants and 1 deletion variant) and 21 previously reported variants were identified in 23 patients. Several cases exhibited mild-to-profound hearing loss. CONCLUSION: Multiple genes have been identified to cause ANSD. Next-generation sequencing plays a role in differentiating ANSD from other clinical conditions and identifying it as a symptom of syndromic ANSD. Molecular diagnosis offers valuable insights into prognosis and helps guide treatment strategies.