Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa

Abstract

Purpose: To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP).Materials and Methods: DNA fragments—encompassing coding exons and adjacent intronic regions of RPGR and RP2—were analyzed by cycle sequencing.Results: Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia.Conclusions: Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients.