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.

KEYWORDS::

• Mutation
• Phenotye
• Retinitis pigmentosa
• RP2
• RPGR

ACKNOWLEDGMENTS

The authors thank all patients and family members for their participation. This study was supported by the National Science Fund for Distinguished Young Scholars (30725044 to QZ).

Declaration of interest: The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper.