EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review

Zahra Abbasi; Hossein Jafari Khamirani; Seyed Mohammad Bagher Tabei; Jamal Manoochehri; Mehdi Dianatpour; Seyed Alireza Dastgheib

doi:10.1038/s41439-023-00229-w

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review

Hum Genome Var. 2023 Jan 13;10(1):1. doi: 10.1038/s41439-023-00229-w.

Authors

Zahra Abbasi¹, Hossein Jafari Khamirani¹, Seyed Mohammad Bagher Tabei^{1

2}, Jamal Manoochehri¹, Mehdi Dianatpour^{1

3}, Seyed Alireza Dastgheib⁴

Affiliations

¹ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
² Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. dastgheib@sums.ac.ir.

Abstract

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.