《听神经病谱系障碍患者人工耳蜗植入术后效果表型和基因型分析》为作者：郝瑾最新的研究成果，本论文的主要观点为摘要 目的：探讨听神经病谱系障碍（Auditory neuropathy spectrum disorders, ANSD）相关基因突变对ANSD患者人工耳蜗植入术后效果的可能影响。方法：对在我院2005年1月1日~2017年1月1日接受人工耳蜗植入术的术前临床诊断符合ANSD的患者进行回顾性分析，并随访。采用听觉能力分级、言语可懂度分级、（婴幼儿）有意义听觉整合量表和有意义言语使用量表进人工耳蜗植入术后效果评价，采集患者外周血进行全外显子组测序和分析ANSD相关基因突变。结果： 参加随访的ANSD患者共10名（男4例，女6例），手术时的中位年龄为1。5岁（0。83~25岁），随访中位时间为人工耳蜗植入后1。5年（1~11年）。 10例样本共获得了188639个SNPs，最终在7例样本中获得了位于7个基因上的9个突变，进一步进行分析。其中3个为已经报道过的致病位点，其余6个为新发突变。结论：ANSD在遗传学上具有高度异质性，对人工耳蜗植入术后效果预测尚待进一步研究。ANSD患者应尽早验配助听器，在助听器不奏效的情况下人工耳蜗植入对重获听力有帮助。 关键词 听神经病谱系障碍、人工耳蜗植入、基因突变 Abstract Objective: To explore the possible effect of ANSD-related gene mutations in the post-operative outcomes of cochlear implantation in ANSD patients。 Methods: Retrospective study and follow-up were conducted in patients diagnosed of ANSD with cochlear implantation in our hospital in January 1st, 2005~January 1st, 2017。 Categories of auditory performance (CAP), speech intelligibility rating (SIR), meaningful auditory integration scale (MAIS) or infant-toddler meaningful auditory integration scale (IT-MAIS) and Meaningful Use of Speech Scale (MUSS) were performed to evaluate the post-operative outcomes of cochlear implantation。 Whole exome sequencing and analysis were performed with the peripheral blood of the ANSD patients。 Results: In 10 patients diagnosed of ANSD, the median age was 1。5 years old (0。83~25 yrs)。 The median time of follow-up was 1。5 years (1~11 yrs) after cochlear implantation。 In total, 188639 SNPs were detected in the 10 subjects。 Nine ANSD-related gene mutations were found in 7 subjects。 Three mutations (rs776107755, rs762879926, rs17847484) were reported disease-causing mutations and the other 6 mutations were novel。 Conclusion: Great genetic heterogeneity was found in ANSD patients。 Further study is needed for the effect of ANSD-related gene mutation on the outcomes of cochlear implantation。 Early hearing aid fitting is recommended for all the ANSD patients。 Cochlear implantation is helpful if hearing aid is not beneficial enough。 Keywords: Auditory neuropathy spectrum disorders, cochlear implantation, gene mutation。现欲投《听力学及言语疾病杂志》，不知是否符合录用要求，望您批评与指正。