Identification of pathogenic mutations in patients with autosomal recessive retinitis pigmentosa

Objective To identify the pathogenic mutations in patients with autosomal recessive retinitis pigmentosa (ARRP). Methods A patient diagnosed as autosomal recessive retinitis pigmentosa and her family members (including patients and non-patients) were enrolled in this study.All the patients' peripheral venous blood samples (8-10 ml) were collected to build up a DNA database for this family.The target region of the ARRP gene was sequenced to check if there existed pathogenic gene mutations in the propositus.Then the further study were performed on the other family members to con firm those related pathogenic mutations. Results Two novel compound heterozygous mutations (c.4649C＞ A and c.970G＞ A) of USH2A were identi fied in patient Ⅱ 7 and Ⅱ 9, and two compound heterozygous mutations (c.4649C＞ A and c.8559-2A＞ G) of USH2A were identi fied in the patient Ⅲ 5. The pathogenic mutation (c.8559-2A＞ G) of USH2A gene has been testi fied before. Conclusion In this study, mutation screening of the pathogenic genes can be achieved in patients with autosomal recessive retinitis pigmentosa using the target region sequencing technology.Combining with site veri fication in other family members, pathogenic mutations can be ultimately identi fied.