EPS8变体致聋，常染色体隐性102（DFNB102）及文献综述。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-01-13 DOI:10.1038/s41439-023-00229-w

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

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引用次数: 0

摘要

EPS8 基因的致病变体会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，在刺激肌动蛋白聚合和捆绑方面发挥关键作用。迄今为止，仅有四例 EPS8 的致病变异被描述过。在本研究中，我们报告了一名伊朗 DFNB102 患者的 EPS8 基因第五个致病变异。此外，我们还回顾了 EPS8 基因突变的文献病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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, 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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks