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Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.

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

Author information

1
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.

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.

PMID:
20021257
DOI:
10.3109/02713680903395299
[Indexed for MEDLINE]
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