목적: Transcription factor (TF) is a protein that binds to promotor regions of DNA, thereby regulating transcription to mRNA in the process of central dogma. While approximately 1600 TFs have been documented in humans, the clinical phenotypes and genotypes of TFs, if mutated, have never been characterized in the context of hearing loss. We herein present a portfolio of TF variants that cause hearing loss. 방법:We reviewed the in-house database of hereditary hearing loss in SNUH and SNUBH. Patients carrying variants of TFs were identified, and their genotypes and clinical phenotypes, including audiologic characteristics, radiologic abnormalities, hearing loss progression, rehabilitation results, were analyzed. 결과:A total of 41 families with variants in TFs including POU3F4 (15, 36.6%), POU4F3 (8, 19.5%), LMX1A (4, 9.7%), ATOH1 (1, 2.4%), GRHL2 (1, 2.4%), MITF (4, 9.7%), SOX10 (3, 7.3%), and PAX3 (5, 12.2%) were identified in this study. Specifically, DFNX2 phenotype associated with POU3F4 variants were found with incomplete partition type III malformation and exhibited mixed or sensorineural hearing loss (SNHL). DFNX2 patients’ auditory performance, if not always, was less than 4 at two years postoperatively, without showing genotype-phenotype correlation. Further, POU4F3 variants frequently exhibited moderately severe, mid-frequency specific SNHL, while LMX1A variants were closely associated with autosomal dominant asymmetric hearing loss. A potential correlation between transcriptional activity and auditory phenotype was noted exclusively in LMX1A variants, but not POU4F3. Additionally, variants in TFs that cause syndromic hearing loss were mostly involved in MITF, SOX10, and PAX3 pertinent to Waardenburg syndrome. 결론:We, for the first time, present a portfolio of the transcription factors that cause hearing loss in humans if mutated, and offer clinical implications based on clinical phenotypes and genotypes under this era of precision medicine and customized auditory rehabilitation.