Mutation Database Mutations of the RDS/Peripherin Gene

Recent update from: 05.12.2005

References

1. Barbazetto,I., Ehrenfeld,A., Gal,A., and Schmidt-Erfurth,U. Clinical and molecular genetic characterization of a novel nonsense mutation (E302X) of the peripherin/RDS gene in pseudovitelliform macular degeneration. 2000; Invest.Ophthalmol.Vis.Sci. 41: S398 Goto Top
   
2. Bareil,C., Delague,V., Arnaud,B., Demaille,J., Hamel,C., and Claustres,M. W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa. 2000; Hum.Mutat.Online. Free Online Source Goto Top
   
3. Bareil,C., Hamel,C., Arnaud,B., Demaille,J., and Claustres,M. A complex allele (1064delTC and IVS2+22ins7) in the peripherin/rds gene in retinitis pigmentosa with macular dystrophy. 1997; Ophthalm.Genet. 18: 129-138.
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4. Budu, Hayasaka,S., Matsumoto,M., Yamada,T., Zhang,X.Y., and Hayasaka,Y. Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 2001; Jpn.J.Ophthalmol. 45: 355-358. Goto Top
   
5. Cideciyan,A.V., Jacobson,S.G., Kemp,C.M., Azevedo,D.F.G., Regunath,G., Sheffield,V.C., and Stone,E.M. Photoreceptor function in patients with heterozygous peripherin/RDS gene mutations. 1995; Invest.Ophthalmol.Vis.Sci. Suppl.: S913 Goto Top
   
6. Dryja,T.P., Hahn,L.B., Kajiwara,K., and Berson,E.L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1972-1982.
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7. Farrar,G.J., Jordan,S.A., Kenna,P., Humphries,M.M., Kumar Singh,R., Mcwilliam,P., Allamand,V., Sharp,E., and Humphries,P. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. 1991; Genomics. 11: 870-874.
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8. Farrar,G.J., Kenna,P., Jordan,S.A., Kumar Singh,R., Humphries,M.M., Sharp,E.M., Sheils,D., and Humphries,P. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 1992; Genomics. 14: 805-807.
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9. Farrar,G.J., Kenna,P., Jordan,S.A., Kumar Singh,R., and Humphries,P. A sequence polymorphism in the human peripherin/RDS gene. 1991; Nucleic.Acids.Res. 19: 6982
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10. Feist,R.M., White,M.F., Jr., Skalka,H., and Stone,E.M. Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg). 1994; Am.J.Ophthalmol. 118: 259-260.
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11. Felbor,U., Schilling,H., and Weber,B.H.F. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/rds gene. 1997; Hum.Mutat. 10: 301-309.
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12. Fishman,G.A., Stone,E.M., Alexander,K.R., Gilbert,L.D., Derlacki,D.J., and Butler,N.S. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 1997; Ophthalmology. 104: 299-306. Goto Top
    
13. Fossarello,M., Bertini,C., Galantuomo,M.S., Cao,A., Serra,A., and Pirastu,M. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. 1996; Arch.Ophthalmol. 114: 448-456.
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14. Gannon,A.M., Rodriguez,J.A., Humphries,P., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Mutations in peripherin/RDS in patients with retinitis pigmentosa: a 12 base-pair deletion in exon 2. 1993; Am.J.Hum.Genet. (Suppl.): Abst Goto Top
    
15. Grover,S., Fishman,G.A., and Stone,E.M. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations. 2002; Ophthalmology. 109: 1110-1117.
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16. Gruning,G., Millan,J.M., Meins,M., Beneyto,M., Caballero,M., Apfelstedt-Sylla,E., Bosch,R., Zrenner,E., Prieto,F., and Gal,A. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. 1994; Hum.Mutat. 3: 321-323.
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17. Heinzmann,C., Kojis,T.L., Flodman,P., Spence,M.A., Quinoz,H., Jimenez,J.M., Sparkes,R.S., and Bateman,J.B. Novel nine base-pair deletion in the third exon of RDS/peripherin causative of autosomal dominant retintis pigmentosa in a large Mexican family (UCLA-RP12). 1995; Am.J.Hum.Genet. 57: A214 Goto Top
    
18. Hoyng,C.B., Heutink,P., Deutman,A.F., and Oostra,B.A. A Mutation in Codon 142 In Central Areolar Choroidal Dystrophy. 1995; Invest.Ophthalmol.Vis.Sci. Suppl.: S825 Goto Top
    
19. 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
    
20. Jacobson,S.G., Cideciyan,A.V., Kemp,C.M., Sheffield,V.C., and Stone,E.M. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: 1662-1674.
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21. Jacobson,S.G., Kemp,C.M., Cideciyan,A.V., Sun,X.K., Vandenburgh,K., Sheffield,V.C., and Stone,E.M. Spectrum of functional phenotypes in RDS gene mutations. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1479 Goto Top
    
22. Jacobson,S.G., Macke,J.P., Sung,C.H., Nathans,J., and Kemp,C.M. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35: 2521-2534. Goto Top
    
23. Jordan,S.A., Farrar,G.J., Kenna,P., and Humphries,P. Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions. 1992; Hum.Mutat. 1: 240-247.
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24. 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.
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25. Kajiwara,K., Hahn,L.B., Mukai,S., Berson,E.L., and Dryja,T.P. Mutations in the human RDS gene in patients with autosomal dominant retinitis pigmentosa. 1992; Invest.Ophthalmol.Vis.Sci. 33 (Suppl.): 1396 Goto Top
    
26. Kajiwara,K., Hahn,L.B., Mukai,S., Travis,G.H., Berson,E.L., and Dryja,T.P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 1991; Nature. 354: 480-483.
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27. Kajiwara,K., Sandberg,M.A., Berson,E.L., and Dryja,T.P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 1993; Nat.Genet. 3: 208-212.
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28. Keen,T.J., Inglehearn,C.F., Kim,R., Bird,A.C., Bhattacharya,S.S., and Bhattacharya,S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. 1994; Hum.Mol.Genet. 3: 367-368.
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29. Kemp,C.M., Jacobson,S.G., Cideciyan,A.V., Kimura,A.E., Sheffield,V.C., and Stone,E.M. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. 1994; Invest.Ophthalmol.Vis.Sci. 35: 3154-3162.
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30. Kikawa,E. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with Bull's eye maculopathy detected by nonradioisotopic SSCP. 1994; Genomics. 20: 137
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31. Kikawa,E., Nakazawa,M., Chida,Y., Shiono,T., and Tamai,M. Novel mutations in the peripherin/RDS gene associated with autosomal dominant Retinitis pigmentosa (ADRP) found in japanese patients. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1715 Goto Top
    
32. Kohl,S., Christ Adler,M., Apfelstedt-Sylla,E., Kellner,U., Eckstein,A., Zrenner,E., and Wissinger,B. RDS/Peripherin Gene Mutations Are Frequent Causes Of Central Retinal Dystrophies. 1997; J.Med.Genet. 34: 620-626.
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33. Kohl,S., Giddings,I., Besch,D., Apfelstedt-Sylla,E., Zrenner,E., and Wissinger,B. The role of the peripherin/RDS gene in retinal dystrophies. 1998; Acta Anat.(Basel). 162: 75-84.
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34. 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
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35. Lam,B.L., Vandenburgh,K., Sheffield,V.C., and Stone,E.M. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). 1995; Am.J.Ophthalmol. 119: 65-71.
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36. Meins,M., Gruning,G., Blankenagel,A., Krastel,H., Reck,B., Fuchs,S., Schwinger,E., and Gal,A. Heterozygous 'null allele' mutation in the human peripherin/RDS gene. 1993; Hum.Mol.Genet. 2: 2181-2182.
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37. Nakazawa,M., Kikawa,E., Chida,Y., and Tamai,M. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. 1994; Hum.Mol.Genet. 3: 1195-1196.
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38. Nakazawa,M., Naoi,N., Wada,Y., Nakazaki,S., Maruiwa,F., Sawada,A., and Tamai,M. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. 1996; Retina. 16: 405-410.
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39. Nakazawa,M., Wada,Y., Chida,Y., and Tamai,M. Effects Of Secondary Structure Changes On Phenotypic Variations Associated With Mutations In The Peripherin/RDS Gene. 1996; Invest.Ophthalmol.Vis.Sci. S994 Goto Top
    
40. Nakazawa,M., Wada,Y., and Tamai,M. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family. 1995; Retina. 15: 518-523.
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41. Nichols,B.E., Drack,A.V., Vandenburgh,K., Kimura,A.E., Sheffield,V.C., and Stone,E.M. A 2 base pair deletion in the RDS gene associated with butterfly- shaped pigment dystrophy of the fovea. 1993; Hum.Mol.Genet. 2: 601-603.
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42. Nichols,B.E., Sheffield,V.C., Vandenburgh,K., Drack,A.V., Kimura,A.E., and Stone,E.M. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 1993; Nat.Genet. 3: 202-207.
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43. Payne,A.M., Downes,S.M., Bessant,D.A., Bird,A.C., and Bhattacharya,S.S. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 1998; Am.J.Hum.Genet. 62: 192-195.
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44. Payne,A.M., Evans,K., Plant,C., Bird,A.C., and Bhattacharya,S.S. The Prevalence And Effect Of Peripherin/RDS Mutations In Autosomal Dominant Pattern Dystrophy. 1996; Invest.Ophthalmol.Vis.Sci. S107 Goto Top
    
45. Piguet,B., Heon,E., Munier,F.L., Grounauer,P.A., Niemeyer,G., Butler,N., Schorderet,D.F., Sheffield,V.C., and Stone,E.M. Full characterization of the maculopathy associated with an Arg- 172-Trp mutation in the RDS/peripherin gene. 1996; Ophthalm.Genet. 17: 175-186. Goto Top
    
46. Reig,C., Serra,A., Gean,E., Vidal,M., Arumi,J., De la Calzada,M.D., Antich,J., and Carballo,M. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. 1995; Ophthalm.Genet. 16: 39-44. Goto Top
    
47. Rodriguez,J.A., Gannon,A.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. 1994; Am.J.Hum.Genet. (Suppl.): A239 Goto Top
    
48. Ruiz,A., Borrego,S., Sanchez,J., and Antinolo,G. P313L: A novel amino acid substitution within the C-terminal domain of the human RDS/Peripherin gene. 1997; Hum.Mutat. 11: 415-416. Goto Top
    
49. Saga,M., Mashima,Y., Akeo,K., Oguchi,Y., Kudoh,J., and Shimizu,N. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. 1993; Hum.Genet. 92: 519-521. Goto Top
    
50. Schatz,H. Diagnostic and therapeutic challenges. 2003; Retina. 23: 530-535. Goto Top
    
51. Sears,J.E., Aaberg,T.A., Sr., Daiger,S.P., and Moshfeghi,D.M. Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina. 2001; Am.J.Ophthalmol. 132: 693-699.
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52. Shastry,B.S. and Trese,M.T. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. 1997; Biochem.Biophys.Res.Commun. 231: 103-105. Goto Top
    
53. Sohocki,M.M., Daiger,S.P., Bowne,S.J., Rodriquez,J.A., Northrup,H., Heckenlively,J.R., Birch,D.G., Mintz-Hittner,H., Ruiz,R.S., Lewis,R.A., Saperstein,D.A., and Sullivan,L.S. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 2001; Hum.Mutat. 17: 42-51.
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54. Souied,E.H., Benlian,P., Amouyel,P., Feingold,J., Lagarde,J.P., Munnich,A., Kaplan,J., Coscas,G., and Soubrane,G. The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. 1998; Am.J.Ophthalmol. 125: 353-359.
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55. Souied,E.H., Rozet,J.M., Gerber,S., Dufier,J.L., Soubrane,G., Coscas,G., Munnich,A., and Kaplan,J. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. 1998; Eur.J.Ophthalmol. 8: 98-101.
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56. Stone,E.M., Vandenburgh,K., Kimura,A.E., Lam,B.L., Fishman,G.A., Heckenlively,J.R., Castillo,T.A., and Sheffield,V.C. Novel mutations in the peripherin (RDS) and rhodopsin genes associated with autosomal dominant retinis pigmentosa (ADRP). 1993; Invest.Ophthalmol.Vis.Sci. 34: 1149 Goto Top
    
57. Sullivan,L.S., Guilford,S.R., Birch,D.G., and Daiger,S.P. A Novel Splice Site Mutation In The Gene For Peripherin/RDS Causing Dominant Retinal Degeneration. 1996; Invest.Ophthalmol.Vis.Sci. S1146 Goto Top
    
58. Telmer,C.A., Retchless,A.C., Kinsey,A.D., Conley,Y., Rigatti,B., Gorin,M.B., and Jarvik,J.W. Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. 2003; Genome Res. 13: 1944-1951. Goto Top
    
59. Trujillo,M.J., Bueno,J., Osorio,A., Sanz,R., Garcia-Sandoval,B., Ramos,C., and Ayuso,C. Three Novel RDS-Peripherin Mutations (689delT, 857del17, G208D) in Spanish Families Affected with Autosomal Dominant Retinal Degenerations. 1997; Hum.Mutat. Online: Free Online Source Goto Top
    
60. Trujillo,M.J., Garcia-Sandoval,B., Lorda-Sanchez,I., Gimenez,A., Sanz,R., Rodriguez,d.A., Gonzalez-Gonzalez,M.C., Ibanez,A., Ramos,C., and Ayuso,C. Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family. 2000; Ophthalm.Genet. 21: 251-256.
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61. Trujillo,M.J., Martinez-Gimeno,M., Gimenez,A., Lorda,I., Bueno,J., Garcia-Sandoval,B., Ramos,C., Carballo,M., and Ayuso,C. Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in spanish families. 2001; Hum.Mutat. 17: 80
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62. van Lith-Verhoeven,J.J., Hoyng,C.B., Deutman,A.F., Sohocki,M.M., and Cremers,F.P.M. Localisation of the genes involved in several autosomal dominant retinal dystrophies. 2001; Invest.Ophthalmol.Vis.Sci. 42: S647 Goto Top
    
63. Weleber,R.G., Carr,R.E., Murphey,W.H., Sheffield,V.C., and Stone,E.M. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. 1993; Arch.Ophthalmol. 111: 1531-1542.
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64. Wells,J., Wroblewski,J., Keen,J., Inglehearn,C., Jubb,C., Eckstein,A., Jay,M., Arden,G., Bhattacharya,S., and Fitzke,F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 1993; Nat.Genet. 3: 213-218.
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65. Yanagihashi,S., Nakazawa,M., Kurotaki,J., Sato,M., Miyagawa,Y., and Ohguro,H. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 2003; Arch.Ophthalmol. 121: 1458-1461. Goto Top
    
66. Yang,Z., Li,Y., Jiang,L., Karan,G., Moshfeghi,D., O'Connor,S., Li,X., Yu,Z., Lewis,H., Zack,D., Jacobson,S., and Zhang,K. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 2004; Ophthalmic Genet. 25: 133-145. Goto Top
    
67. Yang,Z., Lin,W., Moshfeghi,D.M., Thirumalaichary,S., Li,X., Jiang,L., Zhang,H., Zhang,S., Kaiser,P.K., Traboulsi,E.I., and Zhang,K. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. 2003; Am.J.Ophthalmol. 135: 213-218.
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68. Zhang,K., Garibaldi,D.C., Li,Y., Green,W.R., and Zack,D.J. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. 2002; Arch.Ophthalmol. 120: 485-490.
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Contact the editor: irpamp@irpa.org	Return to Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz