These findings expand the mutational spectrum of EPS8L2, provide critical insights for genetic diagnosis, genetic counseling, and prognosis assessment of progressive hearing loss caused by EPS8L2 variants, and further offer a clinical reference for identifying de novo compound heterozygous mutations in autosomal recessive nonsyndromic hearing loss (DFNB106) cases, aiding in more accurate etiological identification and targeted management of similar progressive hearing loss patients. The gene discussed is EPS8L2; the disease is hearing loss disorder.