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

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...

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Autores principales: Abbasi, Zahra, Jafari Khamirani, Hossein, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Dianatpour, Mehdi, Dastgheib, Seyed Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837036/
https://www.ncbi.nlm.nih.gov/pubmed/36635257
http://dx.doi.org/10.1038/s41439-023-00229-w
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author Abbasi, Zahra
Jafari Khamirani, Hossein
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Dianatpour, Mehdi
Dastgheib, Seyed Alireza
author_facet Abbasi, Zahra
Jafari Khamirani, Hossein
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Dianatpour, Mehdi
Dastgheib, Seyed Alireza
author_sort Abbasi, Zahra
collection PubMed
description 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.
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spelling pubmed-98370362023-01-14 EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review Abbasi, Zahra Jafari Khamirani, Hossein Tabei, Seyed Mohammad Bagher Manoochehri, Jamal Dianatpour, Mehdi Dastgheib, Seyed Alireza Hum Genome Var Data Report 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. Nature Publishing Group UK 2023-01-13 /pmc/articles/PMC9837036/ /pubmed/36635257 http://dx.doi.org/10.1038/s41439-023-00229-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Abbasi, Zahra
Jafari Khamirani, Hossein
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Dianatpour, Mehdi
Dastgheib, Seyed Alireza
EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title_full EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title_fullStr EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title_full_unstemmed EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title_short EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
title_sort eps8 variant causes deafness, autosomal recessive 102 (dfnb102) and literature review
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837036/
https://www.ncbi.nlm.nih.gov/pubmed/36635257
http://dx.doi.org/10.1038/s41439-023-00229-w
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