Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and performs critical roles in stimulating actin polymerization and bundling. Thus far, only four pathogenic variations in EPS8 have been described. In this study, we report the fifth pathogenic variant in the EPS8 gene in an Iranian patient with DFNB102. Furthermore, we review literature cases with EPS8 mutations.

中文翻译：

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EPS8变异导致耳聋，常染色体隐性遗传102（DFNB102）及文献复习

EPS8基因的致病变异导致非综合征性听力损失。该基因编码耳蜗内毛细胞中的 EPS8 蛋白，并在刺激肌动蛋白聚合和捆绑中发挥关键作用。到目前为止，仅描述了EPS8中的四种致病变异。在这项研究中，我们报告了伊朗 DFNB102 患者EPS8基因中的第五个致病性变异。此外，我们回顾了EPS8突变的文献案例。