Identification of pathogenic gene mutation in a patient with Usher syndrome

Objective To identify the pathogenic gene mutation in a patient with Usher syndrome. Methods A clinical diagnosed patient with Usher syndrome (USH) and her family members (including patients and non-patients) were selected in this study. Periphera venous blood samples (8-10 ml) were required from each individual to build up a DNA database for this family. The target region o the USH gene was sequenced to check if there existed some pathogenic gene mutations in this patient. Then the further study were performed on the other family members in terms of those related pathogenic gene mutations. Finally the patient’s pathogenic gene mutation was confirmed. Results Two novel compound heterozygous mutations (c.6253G＞ A and c.287_288insG) of CDH23 were identified in this patient. And all the family members who had blood relations to the patient were shown the genotype in accordance with the rules of Usher syndrome, which was inherited in a pattern of the human monogenic diseases. Conclusion In this study, mutation screening of the pathogenic genes can be achieved in patients with Usher syndrome using the targeted capture and high-through pu sequencing technology. Combining with site verification in other family members, pathogenic gene mutations can be ultimately identified