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对耳神经学诊断具有重要意义的基因——现状与未来展望

Genes important for otoneurological diagnostic purposes - current status and future prospects.

作者信息

Pawlak-Osiñska K, Linkowska K, Grzybowski T

机构信息

Department of Otolaryngology and Oncology Collegium Medicum in Bydgoszcz Nicolaus Copernicus University, Skłodowskiej-Curie 9, Bydgoszcz, Poland.

Department of Forensic Medicine Division of Molecular and Forensic Genetics Collegium Medicum in Bydgoszcz Nicolaus Copernicus University, Skłodowskiej-Curie 9, Bydgoszcz, Poland.

出版信息

Acta Otorhinolaryngol Ital. 2018 Jun;38(3):242-250. doi: 10.14639/0392-100X-1692.

Abstract

This review focuses on the current knowledge of the genes responsible for non-syndromic hearing loss that can be useful for otoneurological diagnostic purposes. From among a large number of genes that have been associated with non-syndromic hearing impairment, we selected several best-known genes, including the COCH gene, GJB2, GJB6 and SLC26A4, and we describe their role and effects of mutations and prevalence of mutations in various populations. Next, we focus on genes associated with tinnitus. Important areas for further research include assessment of genes potentially involved in pathophysiology of tinnitus and vertigo, which have traditionally been considered as being of otological aetiology, while advances in neuroimaging techniques have increasingly shifted studies toward neurological correlations.

摘要

本综述聚焦于与非综合征性听力损失相关基因的现有知识,这些知识对耳神经学诊断具有重要意义。在众多与非综合征性听力障碍相关的基因中,我们挑选了几个最为知名的基因,包括COCH基因、GJB2基因、GJB6基因和SLC26A4基因,并描述了它们的作用、突变影响以及在不同人群中的突变发生率。接下来,我们将重点关注与耳鸣相关的基因。进一步研究的重要领域包括评估可能参与耳鸣和眩晕病理生理学的基因,传统上这些症状被认为是耳科病因所致,而神经成像技术的进步使研究越来越多地转向神经学相关性。

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