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Human Molecular Genetics, 2002, Vol. 11, No. 5 605-611
© 2002 Oxford University Press

Mutations in the RPGR gene cause X-linked cone dystrophy

Zhenglin Yang1, Neal S. Peachey1,2,3, Darius M. Moshfeghi1, Sukanya Thirumalaichary1, Lou Chorich4, Yin Y. Shugart5, Keke Fan1 and Kang Zhang1,+

1Cole Eye Institute, I-31, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA, 2Cleveland VA Medical Center and 3Department of Neurosciences, Case Western Reserve University, Cleveland, OH 44106, USA, 4William H. Havener Eye Center, Ohio State University, Columbus, OH 43210, USA and 5Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA

X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision or photopic (cone) system with preservation of night vision or scotopic (rod) function. The disease presents with a triad of photophobia, loss of color vision and reduced central vision. This phenotype is distinct from retinitis pigmentosa (RP) in which there are prominent night and peripheral vision disturbances. X-linked cone dystrophy is a genetically heterogeneous disorder, with linkage to loci on Xp11.4–Xp21.1 (COD1, OMIM 304020) and Xq27 (COD2, OMIM 303800). COD1 maps to a region that harbors the RPGR gene, mutations in which account for >70% of patients with X-linked RP. The majority of these mutations reside in one purine-rich exon, ORF15, encoding 567 amino acids with a repetitive domain rich in glutamic acid residues. We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two distinct mutations in ORF15 in the RPGR gene (ORF15+1343_1344delGG and ORF15+694_708del15) leading to a frame-shift and premature termination of translation in one case and a deletion of five amino acids in another. Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration.

+ To whom correspondence should be addressed at: Moran Eye Center, Department of Ophthalmology and Visual Science, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA. Tel: +1 801 585 2019; Fax: +1 801 585 3501; Email: zhangk@ccf.org Present addresses: Zhenglin Yang, Sukanya Thirumalaichary, Keke Fan and Kang Zhang, Moran Eye Center, Department of Ophthalmology and Visual Science, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA


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