Zhan Kevin Y, Adunka Oliver F, Eshraghi Adrien, Riggs William J, Prentiss Sandra M, Yan Denise, Telischi Fred F, Liu Xuezhong, He Shuman
Department of Otolaryngology - Head & Neck Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Department of Audiology, Nationwide Children's Hospital, Columbus, OH, USA.
J Otol. 2021 Jan;16(1):40-46. doi: 10.1016/j.joto.2020.07.003. Epub 2020 Aug 1.
Congenital hearing loss is remarkably heterogeneous, with over 130 deafness genes and thousands of variants, making for innumerable genotype/phenotype combinations. Understanding both the pathophysiology of hearing loss and molecular site of lesion along the auditory pathway permits for significantly individualized counseling. Electrophysiologic techniques such as electrocochleography (ECochG) and electrically-evoked compound action potentials (eCAP) are being studied to localize pathology and estimate residual cochlear vs. neural health. This review describes the expanding roles of genetic and electrophysiologic evaluation in the precision medicine of congenital hearing loss.The basics of genetic mutations in hearing loss and electrophysiologic testing (ECochG and eCAP) are reviewed, and how they complement each other in the diagnostics and prognostication of hearing outcomes. Used together, these measures improve the understanding of insults to the auditory system, allowing for individualized counseling for CI candidacy/outcomes or other habilitation strategies.
Despite tremendous discovery in deafness genes, the effects of individual genes on neural function remain poorly understood. Bridging the understanding between molecular genotype and neural and functional phenotype is paramount to interpreting genetic results in clinical practice. The future hearing healthcare provider must consolidate an ever-increasing amount of genetic and phenotypic information in the precision medicine of hearing loss.
先天性听力损失具有显著的异质性，存在超过130种耳聋基因和数千种变异，导致无数的基因型/表型组合。了解听力损失的病理生理学以及听觉通路中的分子病变部位有助于进行显著个性化的咨询。诸如耳蜗电图（ECochG）和电诱发复合动作电位（eCAP）等电生理技术正在被研究用于定位病变并评估耳蜗与神经的残余健康状况。本综述描述了基因和电生理评估在先天性听力损失精准医学中不断扩大的作用。回顾了听力损失中基因突变和电生理测试（ECochG和eCAP）的基础知识，以及它们在听力结果的诊断和预后方面如何相互补充。综合使用这些措施可增进对听觉系统损伤的理解，从而为人工耳蜗植入候选资格/结果或其他康复策略提供个性化咨询。
尽管在耳聋基因方面有巨大发现，但单个基因对神经功能的影响仍知之甚少。在临床实践中解释基因结果时，弥合分子基因型与神经和功能表型之间的理解至关重要。未来的听力保健提供者必须在听力损失的精准医学中整合日益增多的基因和表型信息。
