EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
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 t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2023-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00229-w |
| _version_ | 1797355859196510208 |
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| author | Zahra Abbasi Hossein Jafari Khamirani Seyed Mohammad Bagher Tabei Jamal Manoochehri Mehdi Dianatpour Seyed Alireza Dastgheib |
| author_facet | Zahra Abbasi Hossein Jafari Khamirani Seyed Mohammad Bagher Tabei Jamal Manoochehri Mehdi Dianatpour Seyed Alireza Dastgheib |
| author_sort | Zahra Abbasi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T14:18:11Z |
| format | Article |
| id | doaj.art-6ca95923618a49b39336cf87969a1600 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-03-08T14:18:11Z |
| publishDate | 2023-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-6ca95923618a49b39336cf87969a16002024-01-14T12:17:18ZengNature Publishing GroupHuman Genome Variation2054-345X2023-01-011011410.1038/s41439-023-00229-wEPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature reviewZahra Abbasi0Hossein Jafari Khamirani1Seyed Mohammad Bagher Tabei2Jamal Manoochehri3Mehdi Dianatpour4Seyed Alireza Dastgheib5Department of Medical Genetics, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesAbstract 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.https://doi.org/10.1038/s41439-023-00229-w |
| spellingShingle | Zahra Abbasi Hossein Jafari Khamirani Seyed Mohammad Bagher Tabei Jamal Manoochehri Mehdi Dianatpour Seyed Alireza Dastgheib EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review Human Genome Variation |
| 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 |
| url | https://doi.org/10.1038/s41439-023-00229-w |
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