KCNQ4相关遗传性听力损失的进展:一个叙述性的回顾

Xiaolong Zhang, Hongyang Wang, Qiuju Wang
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引用次数: 2

摘要

摘要KCNQ4基因突变可导致耳聋非综合征性常染色体显性2A,是一种常染色体显性非综合征性听力损失。KCNQ4基因突变的耳聋非综合征型常染色体显性2A患者通常表现为对称性、迟发性、进行性高频影响性听力损失,最终可累及所有频率。本文就KCNQ4基因在遗传性听力损失中的作用和功能的研究进展进行综述。我们讨论了KCNQ4基因的病理生理机制以及KCNQ4基因突变的相关临床表型。综述了KCNQ4基因突变相关的遗传性听力损失的最新治疗进展,包括选择性钾通道激活药物和基因治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Progression of KCNQ4 related genetic hearing loss: a narrative review
Abstract KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A, which is a type of autosomal dominant non-syndromic hearing loss. Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutation usually present with symmetrical, delayed, progressive high-frequency-affected hearing loss, which eventually can involve all frequencies. In this article, we comprehensively reviewed the research on the role and function of KCNQ4 gene in genetic hearing loss. We discussed the pathological and physiological mechanisms of KCNQ4 gene and the related clinical phenotypes of KCNQ4 gene mutations. We also reviewed the latest developments in the treatment of KCNQ4 gene mutation-related genetic hearing loss, including selective potassium channel activation drugs and gene therapy.
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