Zhijing Wu, Panpan Bian, Baicheng Xu
The Journal of International Advanced Otology - 2026;22(2):1-9
Hearing loss (HL) is the most common sensory disorder, with genetic factors accounting for approximately 60% of cases of congenital HL. Hearing loss is the most common sensory disorder, affecting approximately 60% of cases, which is often related to hereditary patterns. The MYO6 gene encodes the unconventional myosin VI, a protein crucial for maintaining the function of inner ear hair cells and the normal structure of stereo-cilia. Variants in the MYO6 have been implicated in HL at loci DFNA22 and DFNB37. Due to the high genetic heterogeneity of sensorineural HL, variants at different loci within this gene result in varying degrees of hearing impairment. This review summarizes the current understanding of MYO6 -related pathogenesis, provides an overview of the structure and function of the MYO6 gene, and discusses the diseases associated with various forms of MYO6 variants. The objective is to enhance the understanding of the genotype-phenotype correlation associated with MYO6 and to explore emerging preclinical gene therapy strategies for addressing this genetically heterogeneous disorder, while also providing insights for clinical genetic counseling.
