Objectives::Hearing loss is a worldwide disease. In 50% of the patients, hearing loss is caused by genetic problems associated with GJB2, MTRNR1, SLC26A4, and other genes. Considering the recent development and cost reduction of whole-exome sequencing, it is possible to filter out the normal genes and find which among the more novel genes contributed to the loss of hearing. Methods::After prescreening all individuals for GJB2, MTRNR1 and SLC26A4 mutations, whole-exome sequencing was performed in the proband, and the pathogenic variant was confirmed via Sanger sequencing. Results::The compound-heterozygous variant namely c.8076G>C:p.E2692D and c.6362T>C:p.V2121A in OTOG was identified as a candidate gene of a consanguineous Kazakh family. Conclusion::This is the first reported case of severe deafness caused by an OTOG compound-heterozygous variant in the world and the first case of deafness caused by an OTOG variant in China. This discovery identified the important contribution of OTOG toward deafness and expanded the spectrum of variants responsible for human hearing loss.

目的:分析鄂尔多斯市人间布鲁氏菌病（简称布病）流行规律与特征，为制定完善的布病防控对策提供依据。方法:通过中国疾病预防控制信息系统，收集2016 - 2020年鄂尔多斯市人间布病报告病例的个案资料，采用描述性流行病学方法，分析时间、地区、人群分布规律。结果:2016 - 2020年鄂尔多斯市共报告人间布病2 861例，年均发病率为27.68/10万，无死亡病例。2016 - 2018年人间布病发病率（24.11/10万、20.82/10万、20.11/10万）逐年下降，2019年开始回升（24.59/10万），2020年升至48.53/10万。3 - 8月份（1 882例）为布病发病高峰。全市9个旗区均有人间布病病例报告，累计报告病例数由多到少依次为杭锦旗、达拉特旗、鄂托克前旗、准格尔旗、鄂托克旗、东胜区、乌审旗、伊金霍洛旗、康巴什新区。病例以男性为主，男女性别比为2.23∶ 1.00（1 974∶887）。发病以青壮年为主，年龄主要集中在30~69岁（2 541例）。职业以农民为主，占65.26%（1 867例）；其次为牧民，占18.98%（543例）。结论:鄂尔多斯市人间布病疫情呈上升态势，以青壮年男性农民发病为主。应加强重点人群人间布病卫生宣教，以及高危作业时的个人防护。