Electrophysiology and genetic testing in the precision medicine of congenital deafness: A review

• 作者: Adrien Eshraghi Denise Yan Fred F.Telischi Kevin Y.Zhan Oliver F.Adunka Sandra M.Prentiss Shuman He William J.Riggs Xuezhong Liu
• 来源期刊: 中华耳科学杂志（英文版）
• 年，卷（期）: 2021,（1）
• 所属期刊栏目: Review Articles
• 页码范围: 40-46
• 页数: 7页
• 语种: 英文

摘要

Background: 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 pa-thology 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. Conclusion: 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.