Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Objective: To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP).

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.