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目的:探讨Usher综合征1型（Usher syndrome type 1，USH1）相关基因在136例中国河南籍耳聋家庭中的变异情况。方法:总结2016年11月至2019年12月在郑州大学第一附属医院遗传与产前诊断中心应用二代测序（next-generation sequencing，NGS）技术进行耳聋基因检测的136个耳聋家庭的临床资料和测序数据，统计分析USH1相关基因（n MYO7A、n USH1C、n CDH23、n PCDH15、n USH1G、n CIB2）的变异情况。n 结果:共有5个耳聋家庭检测到USH1相关基因的9个致病或可能致病变异，占所有耳聋家庭的3.7%（5/136），其中4个耳聋家庭致病基因为n MYO7A，1个耳聋家庭致病基因为n CDH23，9个变异中的7个变异为首次报道，包括n MYO7A基因的c.313delG、c.5257dupA、c.5435A>T、c.5636G>C、c.5722T>G变异，以及n CDH23基因的c.155_166del、c.4802delA变异。其中家庭2和家庭3的患者视力目前无异常，但根据基因诊断及行走延迟考虑为USH1的可能性大。n 结论:在本组河南籍耳聋患者中，n MYO7A为USH1相关基因中最常见的致病基因。应用NGS技术可以在视觉症状出现之前对USH1患者进行初步诊断。n “,”Objective:To investigate the variation of genes associated with Usher syndrome type 1(USH1)in 136 Chinese deafness families from Henan province.Methods:The data of 136 deafness families tested by next-generation sequencing(NGS) which identified in the center of genetics and prenatal diagnosis of the First Affiliated Hospital of Zhengzhou University from November 2016 to December 2019 were analysized and the variation frequency of six genes related to Usher syndrome type 1(n MYO7A, n USH1C, n CDH23, n PCDH15, n USH1G, n CIB2) were summarized.n Results:Five deafness families were detected nine pathogenic or likely pathogenic variations in two genes, accounting for 3.7% of all families. Among them, four families were caused by n MYO7A variations and one family was caused by n CDH23 variation. Meanwhile, seven variations of two genes were reported for the first time. They were c.313delG, c.5257dupA, c.5435A>T, c.5636G>C, c.5722T>G ofn MYO7A, and c.155_166del, c.4802delA of n CDH23. The patients' vision of family 2 and family 3 had no obvious abnormality at present, but according to genetic diagnosis and walking dealy, they were considered to be USH1.n Conclusions:MYO7A is the most common caustive gene associated with USH1 in Henan deafness patients, the application of next-generation sequencing technology can make USH1 patients diagnosed earlier before the visual symptoms appear.n