X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

Bartley, 1989, Cone dystrophy (X-linked) (COD1) maps between DXS7 (L1.28) and DXS206 (Xj1.1) and is linked to DXS84 (754), Cytogenet Cell Genet, 51, 959 Bergen, 1994, DNA carrier detection in X-linked progressive cone dystrophy, Clin Genet, 45, 236, 10.1111/j.1399-0004.1994.tb04148.x Bergen, 1993, Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3, Genomics, 18, 463, 10.1006/geno.1993.1504 Bergen, 1997, Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity, Am J Hum Genet, 60, 1468, 10.1086/515458 Bird, 1975, X-linked retinitis pigmentosa, Br J Ophthalmol, 59, 177, 10.1136/bjo.59.4.177 Brown, 2000, Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree, Ophthalmology, 107, 1104, 10.1016/S0161-6420(00)00086-5 Buraczynska, 1997, Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa, Am J Hum Genet, 61, 1287, 10.1086/301646 Fishman, 1988, X-linked retinitis pigmentosa: profile of clinical findings, Arch Ophthalmol, 106, 369, 10.1001/archopht.1988.01060130395029 Hong, 1994, Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1), Am J Hum Genet, 55, 1173 Jacobson, 1989, X-linked progressive cone dystrophy: clinical characteristics of affected males and female carriers, Ophthalmology, 96, 885, 10.1016/S0161-6420(89)32808-9 McGuire, 1995, X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11, Am J Hum Genet, 57, 87 Mears, 2000, Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15, Am J Hum Genet, 67, 1000, 10.1086/303091 Meindl, 1996, A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3), Nat Genet, 13, 35, 10.1038/ng0596-35 Meire, 1994, X linked progressive cone dystrophy: localisation of the gene locus to Xp21-p11.1 by linkage analysis, Br J Ophthalmol, 78, 103, 10.1136/bjo.78.2.103 Ott, 1990, Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests, Proc Natl Acad Sci USA, 87, 701, 10.1073/pnas.87.2.701 Pinckers, 1987, X-linked cone dystrophy: an overlooked diagnosis?, Int Ophthalmol, 10, 241, 10.1007/BF00155631 Pinckers, 1981, Sex-difference in progressive cone dystrophy. I, Ophthalmol Paediatr Genet, 1, 17, 10.3109/13816818109036022 Roepman, 1996, Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1, Hum Mol Genet, 5, 1035, 10.1093/hmg/5.7.1035 Schwahn, 1998, Positional cloning of the gene for X-linked retinitis pigmentosa 2, Nat Genet, 19, 327, 10.1038/1214 Seymour, 1998, Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3, Am J Hum Genet, 62, 122, 10.1086/301667 Sharon, 2000, X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function, Invest Ophthalmol Vis Sci, 41, 2712 Thiselton, 1996, Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping, Genome Res, 6, 1093, 10.1101/gr.6.11.1093 Vervoort, 2000, Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa, Nat Genet, 25, 462, 10.1038/78182 Yokoyama, 2001, Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa, Am J Med Genet, 104, 232, 10.1002/ajmg.10035 Zito, 2000, Novel mutations of the RPGR gene in RP3 families, Hum Mutat, 15, 386, 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4