Manchaiah Vinaya K C, Zhao Fei, Danesh Ali A, Duprey Rachel
Long Term & Chronic Conditions Centre, College of Human & Health Sciences, Swansea University, United Kingdom.
Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):151-8. doi: 10.1016/j.ijporl.2010.11.023. Epub 2010 Dec 21.
Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder which can have either congenital or acquired causes. Furthermore, the aetiology of auditory neuropathy is vast, which may include prematurity, hyperbilirubinaemia, anoxia, hypoxia, congenital brain anomalies, ototoxic drug exposure, and genetic factors. It is estimated that approximately 40% of cases have an underlying genetic basis, which can be inherited in both syndromic and non syndromic conditions. This review paper provides an overview of the genetic conditions associated with auditory neuropathy spectrum disorders (ANSDs) and highlights some of the defective genes that have been found to be linked to the pathological auditory changes.
Literature search was conducted using a number of resources including textbooks, professional journals and the relevant websites.
The largest proportion of auditory neuropathy spectrum disorders (ANSDs) is due to genetic factors which can be syndromic, non-syndromic or mitochondrial related. The inheritance pattern can include all the four main types of inheritances such as autosomal dominant, autosomal recessive, X-linked and mitochondrial.
This paper has provided an overview of mutation with some of the genes and/or loci discovered to be the cause for auditory neuropathy spectrum disorders (ANSDs). It has been noted that different gene mutations may trigger different pathological changes in patients with this disorder. These discoveries have provided us with vital information as to the sites of pathology in auditory neuropathy spectrum disorders (ANSDs), and the results highlight the heterogeneity of the disorder.
听觉神经病是一种听力障碍，其中耳蜗内的外毛细胞功能正常，但内毛细胞和/或听神经功能受到破坏。它是一种异质性疾病，可能有先天性或后天性原因。此外，听觉神经病的病因众多，可能包括早产、高胆红素血症、缺氧、先天性脑异常、耳毒性药物暴露和遗传因素。据估计，约40%的病例有潜在的遗传基础，可在综合征性和非综合征性情况下遗传。本文综述了与听觉神经病谱系障碍（ANSD）相关的遗传状况，并强调了一些已发现与病理性听觉变化相关的缺陷基因。
使用包括教科书、专业期刊和相关网站在内的多种资源进行文献检索。
听觉神经病谱系障碍（ANSD）的最大比例归因于遗传因素，这些因素可能与综合征、非综合征或线粒体相关。遗传模式可包括所有四种主要遗传类型，如常染色体显性遗传、常染色体隐性遗传、X连锁遗传和线粒体遗传。
本文概述了一些已发现是听觉神经病谱系障碍（ANSD）病因的基因和/或位点的突变情况。已经注意到，不同的基因突变可能在该疾病患者中引发不同的病理变化。这些发现为我们提供了关于听觉神经病谱系障碍（ANSD）病理部位的重要信息，结果突出了该疾病的异质性。
