Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa

REFERENCES

• Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32:223–235.
   PubMed Web of Science ®Google Scholar
• Fishman GA. Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol. 1978;96:822–826.
   PubMed Web of Science ®Google Scholar
• Fishman GA, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol. 1988;106:369–375.
   PubMedGoogle Scholar
• Musarella MA, Anson-Cartwright L, Leal SM, et al. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics. 1990;8:286–296.
   PubMed Web of Science ®Google Scholar
• Ott J, Bhattacharya S, Chen JD, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA. 1990;87:701–704.
   PubMed Web of Science ®Google Scholar
• Teague PW, Aldred MA, Jay M, et al. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet. 1994;55:105–111.
   PubMed Web of Science ®Google Scholar
• Fujita R, Buraczynska M, Gieser L, et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet. 1997;61:571–580.
   PubMed Web of Science ®Google Scholar
• Roepman R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1035–1041.
   PubMed Web of Science ®Google Scholar
• Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet. 1999;8:1571–1578.
   PubMed Web of Science ®Google Scholar
• Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25:462–466.
   PubMed Web of Science ®Google Scholar
• Pelletier V, Jambou M, Delphin N, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007;28:81–91.
   PubMed Web of Science ®Google Scholar
• Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998;19:327–332.
   PubMed Web of Science ®Google Scholar
• Chang B, Khanna H, Hawes N, et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006;15:1847–1857.
   PubMed Web of Science ®Google Scholar
• Khanna H, Hurd TW, Lillo C, et al. Shu X, RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. 2005;280:33580–33587.
   PubMed Web of Science ®Google Scholar
• Hong DH, Pawlyk BS, Shang J, et al. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA. 2000;97:3649–3654.
   PubMed Web of Science ®Google Scholar
• Hong DH, Pawlyk BS, Adamian M, et al. A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci. 2005;46:435–441.
   PubMed Web of Science ®Google Scholar
• Hong DH, Pawlyk BS, Adamian M, et al. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci. 2004;45:36–41.
   PubMed Web of Science ®Google Scholar
• Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002;70:1545–1554.
   PubMed Web of Science ®Google Scholar
• Yoon JH, Qiu J, Cai SC, et al. The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. Exp Cell Res. 2006;312:1323–1334.
   PubMed Web of Science ®Google Scholar
• Evans RJ, Hardcastle AJ, Cheetham ME. Focus on molecules: X-linked retinitis pigmentosa 2 protein, RP2. Exp Eye Res. 2006;82:543–544.
   PubMed Web of Science ®Google Scholar
• Evans RJ, Chapple JP, Grayson C, et al. Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa. Methods Enzymol. 2005;404:468–480.
   PubMed Web of Science ®Google Scholar
• Kuhnel K, Veltel S, Schlichting I, et al. Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. Structure. 2006;14:367–378.
   PubMed Web of Science ®Google Scholar
• Grayson C, Bartolini F, Chapple JP, et al. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet. 2002;11:3065–3074.
   PubMed Web of Science ®Google Scholar
• Veltel S, Gasper R, Eisenacher E, et al. The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. Nat Struct Mol Biol. 2008;15:373–380.
   PubMed Web of Science ®Google Scholar
• Liu L, Jin L, Liu M, et al. Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa. Hum Mutat. 2000;15:584.
   PubMedGoogle Scholar
• Li Y, Dong B, Hu AL, et al. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa. Chinese Journal of Medical Genetics. 2005;22:396–398.
   Google Scholar
• Zhao K, Wang L, Wang L, et al. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa. Ophthalmic Genet. 2001;22:187–194.
   PubMedGoogle Scholar
• Lin WD, Shi YR, Tsai FJ, et al. Identification of a polymorphism (D168N) in the XRP2 gene in Chinese. Hum Mutat. 2001;17:354.
   PubMedGoogle Scholar
• Chang W, Ding Q, Tang Z, et al. A novel de novo frame shift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis. 2007;13:1548–1554.
   PubMed Web of Science ®Google Scholar
• Zhang Q, Zulfiqar F, Xiao X, et al. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet. 2005;118:356–365.
   PubMed Web of Science ®Google Scholar
• Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35–42.
   PubMed Web of Science ®Google Scholar
• Demirci FY, Rigatti BW, Wen G, et al. X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70:1049–1053.
   PubMed Web of Science ®Google Scholar
• Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci. 2003;44:1458–1463.
   PubMed Web of Science ®Google Scholar
• Zhang Q, Minoda K. Detection of congenital color vision defects using heteroduplex-SSCP analysis. Jpn J Ophthalmol. 1996;40:79–85.
   PubMed Web of Science ®Google Scholar
• Zhang Q, Guo X, Xiao X, et al. Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet. 2006;43:e20.
   PubMed Web of Science ®Google Scholar
• Duncan JL, Zhang Y, Gandhi J, et al. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48:3283–3291.
   PubMed Web of Science ®Google Scholar
• Neidhardt J, Glaus E, Lorenz B, et al. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis. 2008;14:1081–1093.
   PubMed Web of Science ®Google Scholar
• Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73:1131–1146.
   PubMed Web of Science ®Google Scholar
• Jin ZB, Gu F, Matsuda H, et al. Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. Am J Med Genet A. 2007;143A:2544–2548.
   PubMed Web of Science ®Google Scholar
• Sharon D, Bruns GA, McGee TL, et al. X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 2000;41:2712–2721.
   PubMed Web of Science ®Google Scholar
• Hardcastle AJ, Thiselton DL, Van Maldergem L, et al. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet. 1999;64:1210–1215.
   PubMed Web of Science ®Google Scholar
• Rosenberg T, Schwahn U, Feil S, et al. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic Genet. 1999;20:161–172.
   PubMedGoogle Scholar
• Chakarova CF, Cherninkova S, Tournev I, et al. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis. 2006;12:909–914.
   PubMed Web of Science ®Google Scholar
• Jin ZB, Liu XQ, Hayakawa M, et al. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: Identification of four mutations. Mol Vis. 2006;12:1167–1174.
   PubMed Web of Science ®Google Scholar
• Zito I, Allen LE, Patel RJ, et al. Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat. 2003;21:169.
   PubMed Web of Science ®Google Scholar
• Pusch CM, Broghammer M, Jurklies B, et al. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. Hum Mutat. 2002;20:405.
   PubMedGoogle Scholar
• Prokisch H, Hartig M, Hellinger R, et al. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2007;48:4012–4018.
   PubMed Web of Science ®Google Scholar
• Maubaret C, Hamel C. Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations. J Fr Ophtalmol. 2005;28:71–92.
   PubMed Web of Science ®Google Scholar
• Shu X, Black GC, Rice JM, et al. RPGR mutation analysis and disease: An update. Hum Mutat. 2007;28:322–328.
   PubMed Web of Science ®Google Scholar
• Robson AG, Michaelides M, Luong VA, et al. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. Br J Ophthalmol. 2008;92:95–102.
   PubMed Web of Science ®Google Scholar
• Ruddle JB, Ebenezer ND, Kearns LS, et al. RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population. Br J Ophthalmol. 2009;93:1151–1154.
   PubMed Web of Science ®Google Scholar
• Walia S, Fishman GA, Swaroop A, et al. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol. 2008;126:379–384.
   PubMedGoogle Scholar
• Schwartz SB, Aleman TS, Cideciyan AV, et al. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2003;44:3593–3597.
   PubMed Web of Science ®Google Scholar
• Flaxel CJ, Jay M, Thiselton DL, et al. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br J Ophthalmol. 1999;83:1144–1148.
   PubMed Web of Science ®Google Scholar