Disease Database Retinitis Pigmentosa

Recent update from: 20.03.2007

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Abid,A., Ismail,M., Mehdi,S.Q., and Khaliq,S. Identification of novel mutations in SEMA4A gene associated with retinal degenerative diseases. 2005; J.Med.Genet. .: Goto Top
   
2. al Maghtheh,M., Vithana,E., Tarttelin,E., Jay,M., Evans,K., Moore,T., Bhattacharya,S., and Inglehearn,C.F. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 1996; Am.J.Hum.Genet. 59: 864-871. Goto Top
   
3. al Maghtheh,M., Vithana,E.N., Inglehearn,C.F., Moore,T., Bird,A.C., and Bhattacharya,S.S. Segregation of a PRKCG mutation in two RP11 families. 1998; Am.J.Hum.Genet. 62: 1248-1252. Goto Top
   
4. Bader,I., Brandau,O., Achatz,H., Apfelstedt-Sylla,E., Hergersberg,M., Lorenz,B., Wissinger,B., Wittwer,B., Rudolph,G., Meindl,A., and Meitinger,T. 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. 2003; Invest.Ophthalmol.Vis.Sci. 44: 1458-1463. Goto Top
   
5. Bardien,S., Ebenezer,N., Greenberg,J., Inglehearn,C.F., Bartmann,L., Goliath,R., Beighton,P., Ramesar,R., and Bhattacharya,S.S. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. 1995; Hum.Mol.Genet. 4: 1459-1462. Goto Top
   
6. Bayes,M., Goldaracena,B., Martinez-Mir,A., Iragui Madoz,M.I., Solans,T., Chivelet,P., Bussaglia,E., Ramos Arroyo,M.A., Baiget,M., Vilageliu,L., Balcells,S., Gonzalez Duarte,R., and Grinberg,D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. 1998; J.Med.Genet. 35: 141-145. Goto Top
   
7. Berson,E.L., Grimsby,J.L., Adams,S.M., McGee,T.L., Sweklo,E., Pierce,E.A., Sandberg,M.A., and Dryja,T.P. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). 2001; Invest.Ophthalmol.Vis.Sci. 42: 2217-2224. Goto Top
   
8. Bessant,D.A., Payne,A.M., Mitton,K.P., Wang,Q.L., Swain,P.K., Plant,C., Bird,A.C., Zack,D.J., Swaroop,A., and Bhattacharya,S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 21: 355-356. Goto Top
   
9. Bhattacharya,S.S., Wright,A.F., Clayton,J.F., Price,W.H., Phillips,C.I., McKeown,C.M., Jay,M., Bird,A.C., Pearson,P.L., and Southern,E.M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. 1984; Nature. 309: 253-255.
   Goto Top
   
10. Blanton,S.H., Heckenlively,J.R., Cottingham,A.W., Friedman,J., Sadler,L.A., Wagner,M., Friedman,L.H., and Daiger,S.P. Linkage Mapping of Autosomal Dominant Retinitis-Pigmentosa (RP1) to the Pericentric Region of Human Chromosome-8. 1991; Genomics. 11: 857-869. Goto Top
    
11. Bowne,S.J., Sullivan,L.S., Blanton,S.H., Cepko,C.L., Blackshaw,S., Birch,D.G., Hughbanks-Wheaton,D., Heckenlively,J.R., and Daiger,S.P. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 2002; Hum.Mol.Genet. 11: 559-568. Goto Top
    
12. Breuer,D.K., Musarella,M., and Swaroop,A. Verification And Fine Mapping Of The X-Linked Retinitis Pigmentosa Locus RP6. 2000; Invest.Ophthalmol.Vis.Sci. 41: S191 Goto Top
    
13. Bruford,E.A., Mansfield,D.C., Teague,P.W., Barber,A., Fossarello,M., and Wright,A.F. Genetic linkage studies in autosomal recessive retinitis pigmentosa. 1994; Am.J.Hum.Genet. (Suppl.): A181 Goto Top
    
14. Chakarova,C.F., Hims,M.M., Bolz,H., Abu-Safieh,L., Patel,R.J., Papaioannou,M.G., Inglehearn,C.F., Keen,T.J., Willis,C., Moore,A.T., Rosenberg,T., Webster,A.R., Bird,A.C., Gal,A., Hunt,D., Vithana,E.N., and Bhattacharya,S.S. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 2002; Hum.Mol.Genet. 11: 87-92. Goto Top
    
15. Chen,J.D., Dickinson,P., Gray,R., Constable,I., Sheffield,L., and Denton,M.J. Non-allelic mutations in X-linked retinitis pigmentosa. 1989; Clin Genet. 35: 338-342.
    Goto Top
    
16. Deery,E.C., Vithana,E.N., Newbold,R.J., Gallon,V.A., Bhattacharya,S.S., Warren,M.J., Hunt,D.M., and Wilkie,S.E. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. 2002; Hum.Mol.Genet. 11: 3209-3219. Goto Top
    
17. den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B., and Cremers,F.P. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 2001; Am.J.Hum.Genet. 69: 198-203. Goto Top
    
18. den Hollander,A.I., ten Brink,J.B., de Kok,Y.J., van Soest,S., van den Born,L.I., van Driel,M.A., van de Pol,D.J.R., Payne,A.M., Bhattacharya,S.S., Kellner,U., Hoyng,C.B., Westerveld,A., Brunner,H.G., Bleeker Wagemakers,E.M., Deutman,A.F., Heckenlively,J.R., Cremers,F.P.M., Bergen,A.A.B., van de Pol,D.J., Bleeker-Wagemakers,E.M., Heckenlively,J.R., Cremers,F.P., and Bergen,A.A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 1999; Nat.Genet. 23: 217-221. Goto Top
    
19. Dryja,T.P., Finn,J.T., Peng,Y.W., McGee,T.L., Berson,E.L., and Yau,K.W. Mutations in the gene encoding the alpha subunit of the rod cGMP- gated channel in autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 10177-10181. Goto Top
    
20. Dryja,T.P., McGee,T.L., Hahn,L.B., Cowley,G.S., Olsson,J.E., Reichel,E., Sandberg,M.A., and Berson,E.L. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 1990; N.Engl.J.Med. 323: 1302-1307. Goto Top
    
21. Farrar,G.J., Kenna,P., Jordan,S.A., Kumar Singh,R., Humphries,M.M., Sharp,E.M., Sheils,D.M., and Humphries,P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1991; Nature. 354: 478-480. Goto Top
    
22. Finckh,U., Xu,S.Y., Kumaramanickavel,G., Schurmann,M., Mukkadan,J.K., Fernandez,S.T., John,S., Weber,J.L., Denton,M.J., and Gal,A. Homozygosity Mapping Of Autosomal Recessive Retinitis Pigmentosa Locus (RP22) On Chromosome 16p12.1-P12.3. 1998; Genomics. 48: 341-345. Goto Top
    
23. Fujita,R., Buraczynska,M., Gieser,L., Wu,W., Forsythe,P., Abrahamson,M., Jacobson,S.G., Sieving,P.A., Andreasson,S., and Swaroop,A. 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. 1997; Am.J.Hum.Genet. 61: 571-580. Goto Top
    
24. Gal,A., Li,Y., Thompson,D.A., Weir,J., Orth,U., Jacobson,S.G., Apfelstedt-Sylla,E., and Vollrath,D. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. 2000; Nat.Genet. 26: 270-271. Goto Top
    
25. Gieser,L., Fujita,R., Goring,H.H., Ott,J., Hoffman,D.R., Cideciyan,A.V., Birch,D.G., Jacobson,S.G., and Swaroop,A. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. 1998; Am.J.Hum.Genet. 63: 1439-1447. Goto Top
    
26. Greenberg,J., Goliath,R., Beighton,P., and Ramesar,R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. 1994; Hum.Mol.Genet. 3: 915-918. Goto Top
    
27. Gu,S., Kumaramanickavel,G., Srikumari,C.R., Denton,M.J., and Gal,A. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. 1999; J.Med.Genet. 36: 705-707. Goto Top
    
28. Hameed,A., Khaliq,S., Ismail,M., Anwar,K., Mehdi,S.Q., Bessant,D., Payne,A.M., and Bhattacharya,S.S. A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a pakistani family. 2001; Invest.Ophthalmol.Vis.Sci. 42: 1436-1438. Goto Top
    
29. Hardcastle,A.J., Thiselton,D.L., Zito,I., Ebenezer,N., Mah,T.S., Gorin,M.B., and Bhattacharya,S.S. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). 2000; Invest.Ophthalmol.Vis.Sci. 41: 2080-2086. Goto Top
    
30. Huang,S.H., Pittler,S.J., Huang,X., Oliveira,L., Berson,E.L., and Dryja,T.P. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 1995; Nat.Genet. 11: 468-471. Goto Top
    
31. Inglehearn,C., Farrar,J., Denton,M., Gal,A., Humphries,P., and Bhattacharya,S. Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. 1993; Am.J.Hum.Genet. 53: 536-537. Goto Top
    
32. Inglehearn,C., Keen,T.J., al Maghtheh,M., and Bhattacharya,S. Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. 1994; Am.J.Hum.Genet. 55: 581-582. Goto Top
    
33. Inglehearn,C.F. and Hardcastle,A.J. Nomenclature for inherited diseases of the retina. 1996; Am.J.Hum.Genet. 58: 433-435. Goto Top
    
34. Jacobson,S.G., Cideciyan,A.V., Bascom,R.A., McInnes,R.R., Sheffield,V.C., and Stone,E.M. Variable expression of retinitis pigmentosa in patients with digenic inheritance of peripherin/RDS and ROM-1 gene mutations. 1995; Invest.Ophthalmol.Vis.Sci. 36: S913 Goto Top
    
35. Jordan,S.A., Farrar,G.J., Kenna,P., Humphries,M.M., Sheils,D.M., Kumar Singh,R., Sharp,E.M., Soriano,N., Ayuso,C., and Benitez,J. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. 1993; Nat.Genet. 4: 54-58. Goto Top
    
36. Kajiwara,K., Berson,E.L., and Dryja,T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 1994; Science. 264: 1604-1608. Goto Top
    
37. Keen,T.J., Hims,M.M., McKie,A.B., Moore,A.T., Doran,R.M., Mackey,D.A., Mansfield,D.C., Mueller,R.F., Bhattacharya,S.S., Bird,A.C., Markham,A.F., and Inglehearn,C.F. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 2002; Eur.J Hum Genet. 10: 245-249. Goto Top
    
38. Keen,T.J., Inglehearn,C.F., Green,E.D., Cunningham,A.F., Patel,R.J., Peacock,R.E., Gerken,S., White,R., Wessenbach,J., Bhattacharya,S.S., and Weissenbach,J. YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p. 1995; Genomics. 28: 383-388. Goto Top
    
39. Kennan,A., Aherne,A., Palfi,A., Humphries,M., McKee,A., Stitt,A., Simpson,D.A., Demtroder,K., Orntoft,T., Ayuso,C., Kenna,P.F., Farrar,G.J., and Humphries,P. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(--/--) mice. 2002; Hum.Mol.Genet. 11: 547-558. Goto Top
    
40. Khani,S.C., Abitbol,M., Polans,A.S., Zhou,J., Asson-Batres,M.A., Palczewski,K., and Dryja,T.P. The nucleotide sequence of human rhodopsin kinase cDNA and the chromosomal localization of the gene. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1718 Goto Top
    
41. Khani,S.C., Abitbol,M., Yamamoto,S., Maravic Magovcevic,I., and Dryja,T.P. Characterization and chromosomal localization of the gene for human rhodopsin kinase. 1996; Genomics. 35: 571-576. Goto Top
    
42. Kojis,T.L., Heinzmann,C., Flodman,P., Ngo,J.T., Sparkes,R.S., Spence,M.A., Bateman,J.B., and Heckenlively,J.R. Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. 1996; Am.J.Hum.Genet. 347-355. Goto Top
    
43. Kumar Singh,R., Farrar,G.J., Mansergh,F., Kenna,P., Bhattacharya,S., Gal,A., and Humphries,P. Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8). 1993; Hum.Mol.Genet. 2: 875-878. Goto Top
    
44. Kumar Singh,R., Jordan,S.A., Farrar,G.J., and Humphries,P. Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. 1991; Nucleic.Acids.Res. 19: 5800 Goto Top
    
45. Kumar Singh,R., Kenna,P.F., Farrar,G.J., and Humphries,P. Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa. 1993; Genomics. 15: 212-215. Goto Top
    
46. Leutelt,J., Oehlmann,R., Younus,F., van den Born,L.I., Weber,J.L., Denton,M.J., Mehdi,S.Q., and Gal,A. Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. 1995; Clin.Genet. 47: 122-124. Goto Top
    
47. Li,Y., Marcos,I., Borrego,S., Yu,Z., Zhang,K., and Antino,G. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. 2001; J.Med.Genet. 38: 478-480. Goto Top
    
48. Marcos,I., Ruiz,A., Blaschak,C.J., Borrego,S., Cutting,G.R., and Antinolo,G. Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. 2000; J.Med.Genet. 37: E5 Goto Top
    
49. Martinez-Gimeno,M., Maseras,M., Baiget,M., Beneito,M., Antinolo,G., Ayuso,C., and Carballo,M. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 2001; Hum.Mutat. 17: 520 Goto Top
    
50. Martinez-Mir,A., Bayes,M., Vilageliu,L., Grinberg,D., Ayuso,C., del Rio,T., Garcia Sandoval,B., Bussaglia,E., Baiget,M., Gonzalez Duarte,R., and Balcells,S. A New Locus For Autosomal Recessive Retinitis Pigmentosa (RP19) Maps To 1p13-1p21. 1997; Genomics. 40: 142-146. Goto Top
    
51. Martinez-Mir,A., Paloma,E., Allikmets,R., Ayuso,C., del Rio,T., Dean,M., Vilageliu,L., Gonzalez Duarte,R., and Balcells,S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. 1998; Nat.Genet. 18: 11-12. Goto Top
    
52. Maw,M.A., Kennedy,B., Knight,A., Bridges,R., Roth,K.E., Mani,E.J., Mukkadan,J.K., Nancarrow,D., Crabb,J.W., and Denton,M.J. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 1997; Nat.Genet. 17: 198-200. Goto Top
    
53. McGee,T.L., Devoto,M., Ott,J., Berson,E.L., and Dryja,T.P. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. 1997; Am.J.Hum.Genet. 61: 1059-1066. Goto Top
    
54. McGuire,R.E., Jordan,S.A., Braden,V.V., Bouffard,G.G., Humphries,P., Green,E.D., and Daiger,S.P. Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. 1996; Genome Res. 6: 255-266. Goto Top
    
55. McGuire,R.E., Jordan,S.A., Humphries,P., Green,E.D., and Daiger,S.P. Genetic and physical mapping of the RP10 region. 1995; Am.J.Hum.Genet. 57: A264 Goto Top
    
56. McKie,A.B., McHale,J.C., Keen,T.J., Tarttelin,E.E., Goliath,R., van Lith-Verhoeven,J.J., Greenberg,J., Ramesar,R.S., Hoyng,C.B., Cremers,F.P., Mackey,D.A., Bhattacharya,S.S., Bird,A.C., Markham,A.F., and Inglehearn,C.F. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 2001; Hum.Mol.Genet. 10: 1555-1562. Goto Top
    
57. McLaughlin,M.E., Ehrhart,T.L., Berson,E.L., and Dryja,T.P. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 3249-3253. Goto Top
    
58. Meindl,A., Dry,K., Herrmann,K., Manson,F., Ciccodicola,A., Edgar,A., Carvalho,M.R., Achatz,H., Hellebrand,H., Lennon,A., Migliaccio,C., Porter,K., Zrenner,E., Bird,A., Jay,M., Lorenz,B., Wittwer,B., D'Urso,M., Meitinger,T., and Wright,A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 1996; Nat.Genet. 13: 35-42. Goto Top
    
59. Melamud,A., Shen,G.Q., Chung,D., Xi,Q., Simpson,E., Li,L., Peachey,N.S., Zegarra,H., Hagstrom,S.A., Wang,Q.K., and Traboulsi,E.I. Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. 2006; J.Med.Genet. 43: e27 Goto Top
    
60. Mohamed,Z., Bell,C., Hammer,H.M., Converse,C.A., Esakowitz,L., and Haites,N.E. Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. 1996; J.Med.Genet. 33: 714-715. Goto Top
    
61. Morimura,H., Fishman,G.A., Grover,S.A., Fulton,A.B., Berson,E.L., and Dryja,T.P. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. 1998; Proc.Natl.Acad.Sci.U.S.A. 95: 3088-3093. Goto Top
    
62. Morimura,H., Saindelle-Ribeaudeau,F., Berson,E.L., and Dryja,T.P. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 1999; Nat.Genet. 23: 393-394. Goto Top
    
63. Nakazawa,M., Wada,Y., and Tamai,M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 1998; Arch.Ophthalmol. 116: 498-501. Goto Top
    
64. Ott,J., Bhattacharya,S., Chen,J.D., Denton,M.J., Donald,J., Dubay,C., Farrar,G.J., Fishman,G.A., Frey,D., and Gal,A. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 1990; Proc.Natl.Acad.Sci.U.S.A. 87: 701-704. Goto Top
    
65. Papaioannou,M., Chakarova,C.F., Prescott,D.C., Waseem,N., Theis,T., Lopez,I., Gill,B., Koenekoop,R.K., and Bhattacharya,S.S. A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. 2005; Hum Genet. 118: 501-503. Goto Top
    
66. Payne,A.M., Khaliq,S., Hameed,A., Ismail,M., Anwar,K., Bessant,D., Mehdi,S.Q., and Bhattacharya,S.S. A New Locus For Autosomal Recessive Retinitis Pigmentosa Mapping To Chromosome 4q32-34. 2000; Invest.Ophthalmol.Vis.Sci. S194 Goto Top
    
67. Pierce,E.A., Quinn,T., Meehan,T., McGee,T.L., Berson,E.L., and Dryja,T.P. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 1999; Nat.Genet. 22: 248-254. Goto Top
    
68. Pittler,S.J., Lee,A.K., Altherr,M.R., Howard,T.A., Seldin,M.F., Hurwitz,R.L., Wasmuth,J.J., and Baehr,W. Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. 1992; J.Biol.Chem. 267: 6257-6262. Goto Top
    
69. Rebello,G., Ramesar,R., Vorster,A., Roberts,L., Ehrenreich,L., Oppon,E., Gama,D., Bardien,S., Greenberg,J., Bonapace,G., Waheed,A., Shah,G.N., and Sly,W.S. Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 2004; Proc.Natl.Acad.Sci.U.S.A. 101: 6617-6622. Goto Top
    
70. Rebello,G., Vorster,A., Greenberg,J., Coutts,N., Roberts,L., Ehrenreich,L., Gama,D., and Ramesar,R. Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. 2003; Clin.Genet. 64: 137-141. Goto Top
    
71. Rosenfeld,P.J., Cowley,G.S., McGee,T.L., Sandberg,M.A., Berson,E.L., and Dryja,T.P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. 1992; Nat.Genet. 1: 209-213. Goto Top
    
72. Rosenfeld,P.J., Mckusick,V.A., Amberger,J.S., and Dryja,T.P. Recent advances in the gene map of inherited eye disorders: Primary hereditary diseases of the retina, choroid, and vitreous. 1994; J.Med.Genet. 31: 903-915. Goto Top
    
73. Ruiz,A., Borrego,S., Marcos,I., and Antinolo,G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. 1998; Am.J.Hum.Genet. 62: 1452-1459. Goto Top
    
74. Sakuma,H., Inana,G., Murakami,A., Yajima,T., Weleber,R.G., Murphey,W.H., Gass,J.D.M., Hotta,Y., Hayakawa,M., Fujiki,K., Gao,Y.Q., Danciger,M., Farber,D., Cideciyan,A.V., and Jacobson,S.G. A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. 1995; Genomics. 27: 384-386. Goto Top
    
75. Sandberg,M.A., Weigel DiFranco,C., Dryja,T.P., and Berson,E.L. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. 1995; Invest.Ophthalmol.Vis.Sci. 36: 1934-1942. Goto Top
    
76. Schwahn,U., Lenzner,S., Dong,J., Feil,S., Hinzmann,B., van Duijnhoven,G., Kirschner,R., Hemberger,M., Bergen,A.A., Rosenberg,T., Pinckers,A.J., Fundele,R., Rosenthal,A., Cremers,F.P., Ropers,H.H., and Berger,W. Positional cloning of the gene for X-linked retinitis pigmentosa 2. 1998; Nat.Genet. 19: 327-332. Goto Top
    
77. Sohocki,M.M., Sullivan,L.S., Mintz-Hittner,H.A., Birch,D., Heckenlively,J.R., Freund,C.L., McInnes,R.R., and Daiger,S.P. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 1998; Am.J.Hum.Genet. 63: 1307-1315. Goto Top
    
78. Sullivan,L.S., Heckenlively,J.R., Bowne,S.J., Zuo,J., Hide,W.A., Gal,A., Denton,M., Inglehearn,C.F., Blanton,S.H., and Daiger,S.P. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 22: 255-259. Goto Top
    
79. Thiselton,D.L., Hampson,R.M., Nayudu,M., Van Maldergem,L., Wolf,M.L., Saha,B.K., Bhattacharya,S.S., and Hardcastle,A.J. 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. 1996; Genome Res. 6: 1093-1102. Goto Top
    
80. Tuson,M., Marfany,G., and Gonzalez-Duarte,R. Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26). 2004; Am.J.Hum Genet. 74: 128-138. Goto Top
    
81. Van de Vosse,E., Bergen,A.A.B., Meershoek,E.J., Oosterwijk,J.C., Gregory,S., Bakker,B., Weissenbach,J., Coffey,A.J., van Ommen,G.J., and Den Dunnen,J.T. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 1996; Eur.J.Hum.Genet. 4: 101-104. Goto Top
    
82. van Lith-Verhoeven,J.J., van der Velde-Visser,SD., Sohocki,M.M., Deutman,A.F., Brink,H.M., Cremers,F.P., and Hoyng,C.B. Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). 2002; Ophthalm.Genet. 23: 1-12. Goto Top
    
83. van Soest,S., te Nijenhuis,S., van den Born,L.I., Bleeker Wagemakers,E.M., Sharp,E., Sandkuijl,L.A., Westerveld,A., and Bergen,A.A.B. Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). 1996; Cytogenet.Cell Genet. 73: 81-85. Goto Top
    
84. van Soest,S., van den Born,L.I., Gal,A., Farrar,G.J., Bleeker Wagemakers,E.M., Westerveld,A., Humphries,P., Sandkuijl,L.A., Bergen,A.A.B., van den Born,I.L., and Bleeker Wagemakers,L.M. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. 1994; Genomics. 22: 499-504. Goto Top
    
85. Vithana,E.N., Abu-Safieh,L., Allen,M.J., Carey,A., Papaioannou,M., Chakarova,C., al Maghtheh,M., Ebenezer,N.D., Willis,C., Moore,A.T., Bird,A.C., Hunt,D.M., and Bhattacharya,S.S. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 2001; Mol.Cell. 8: 375-381. Goto Top
    
86. Wada,Y., Abe,T., Takeshita,T., Sato,H., Yanashima,K., and Tamai,M. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2395-2400. Goto Top
    
87. Weber,J.L. and May,P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 1989; Am.J.Hum.Genet. 44: 388-396. Goto Top
    
88. Wright,A.F., Bhattacharya,S.S., Aldred,M.A., Jay,M., Carothers,A.D., Thomas,N.S., Bird,A.C., Jay,B., and Evans,H.J. Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. 1991; J.Med.Genet. 28: 453-457. Goto Top
    
89. Xu,S.Y., Denton,M., Sullivan,L., Daiger,S.P., and Gal,A. Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. 1996; Hum.Genet. 98: 741-743. Goto Top
    
90. Xu,S.Y., Rosenberg,T., and Gal,A. Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. 1998; Hum.Genet. 102: 493-494. Goto Top
    
91. Xu,S.Y., Schwartz,M., Rosenberg,T., and Gal,A. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. 1996; Hum.Mol.Genet. 5: 1193-1197. Goto Top
    
92. Yamamoto,S., Khani,S.C., Berson,E.L., and Dryja,T.P. Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. 1997; Exp.Eye Res. 65: 249-253. Goto Top
    
93. Zangerl,B., Goldstein,O., Philp,A.R., Lindauer,S.J., Pearce-Kelling,S.E., Mullins,R.F., Graphodatsky,A.S., Ripoll,D., Felix,J.S., Stone,E.M., Acland,G.M., and Aguirre,G.D. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. 2006; Genomics. 88: 551-563. Goto Top
    
94. Zhang,Q., Zulfiqar,F., Xiao,X., Riazuddin,S.A., Ayyagari,R., Sabar,F., Caruso,R., Sieving,P.A., Riazuddin,S., and Hejtmancik,J.F. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. 2005; Hum.Genet. 118: 356-365. Goto Top
    
95. Zhao,C., Lu,S., Zhou,X., Zhang,X., Zhao,K., and Larsson,C. A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. 2006; Hum Genet. 119: 617-623. Goto Top
    

    ---

    	Return to Retina International‘s Scientific Newsletter	Return to pagehead	Return to Database Page
    Contact the editor	Return to Disease Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz