AIM:To analyze the clinical features of a Usher syndrome family and explore the pathogenic gene of the disease.

METHODS: A Chinese family with Usher syndrome was involved in our study. After informed consent, careful clinical examinations were taken and 4mL blood were obtained. The whole genome DNA was extracted and target-captured next generation sequencing of the proband was performed to identify suspected mutations. We used Sanger sequencing to verify the detected mutations in all the members of the family, as well as in 100 normal controls.

RESULTS: In addition to typical retinitis pigmentosa, the patients suffered from mild to moderate sensorineural deafness. Sequencing results revealed compound heterozygous mutations(c.2310_2311insA and c.8559-2A>G)of USH2A gene in the patients, and either of the mutations was found in normal relatives that had consanguinity with the patients. Both of the mutations were not found in other members of the family and normal individuals.

CONCLUSION: USH2A is the pathogenic gene of the disease in this family. The mutation c.8559-2A>G(IVS42)is a previously reported mutation, while the mutation c.2310_2311 insA(p.E771Rfs*8)is a novel mutation. The study has expanded the mutation spectrum of USH2A gene resulting in Usher syndrome.