Mutations in the RPGR gene cause X-linked cone dystrophy

Zhenglin Yang, Neal S. Peachey, Darius M. Moshfeghi, Sukanya Thirumalaichary, Lou Chorich, Yin Y. Shugart, Keke Fan, Kang Zhang

Research output: Contribution to journalArticlepeer-review

109 Scopus citations


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+134344deIGG and ORF15+6948del15) 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.

Original languageEnglish (US)
Pages (from-to)605-611
Number of pages7
JournalHuman Molecular Genetics
Issue number5
StatePublished - Mar 1 2002

ASJC Scopus subject areas

  • Genetics


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