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.
Ji
Yanli
Y
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.
Wang
Juan
J
Xiao
Xueshan
X
Li
Shiqiang
S
Guo
Xiangming
X
Zhang
Qingjiong
Q
D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity
D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D019204:GTP-Binding Proteins