PURPOSE. Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. Th.e objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. METHODS. A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations. RESULTS. We found biallelic mutations in 92 probands (77.3%), monoallelic mutations in 5 patients (4.2%), and 1 hemizygous imitation in 1 patient (0,8%), resulting in an overall mutation detection rate of 78.2%. Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98,1111-07A, PCDH15, 11,SH1C, and. USH2A) genes; 5 other retinal degeneration genes (CHM, CIVGA 1, EYS, PDE613, and TULP1); and 1 nonsyndromic hearing loss gene (MY0/5A) were identified, and 78 were novel. Mutations of MY0A 7 were responsible for 60% of USH1 families, followed by PCDH15 (20%) and USHIC (10%). Mutations of 115:112A accounted for 67.7% of USII2 families, and mutation c.8559-2A>6 was the most frequent one, accounting for 19.1% of the identified GS/12A alleles. CONCLUSIONS. Our results confirm that the mutation spectrum for each USH gene in Chinese patients differs from those of other populations. The formation of the mutation profile for the Chinese population will enable a precise genetic diagnosis for USH patients in the future.