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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Asian People / genetics*
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DNA Mutational Analysis
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Electroretinography
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Eye Proteins / genetics*
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Female
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GTP-Binding Proteins
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / physiopathology
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Genotype
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Humans
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Intracellular Signaling Peptides and Proteins / genetics*
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Male
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Membrane Proteins / genetics*
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Mutation*
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Pedigree
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Phenotype
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Photoreceptor Cells, Vertebrate / physiology
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Polymerase Chain Reaction
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Retinitis Pigmentosa / diagnosis
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Retinitis Pigmentosa / genetics*
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Retinitis Pigmentosa / physiopathology
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Visual Acuity
Substances
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Eye Proteins
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Intracellular Signaling Peptides and Proteins
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Membrane Proteins
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RP2 protein, human
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RPGR protein, human
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GTP-Binding Proteins