Scientific Mutation Database
Mutations of the RDS/Peripherin Gene

Recent update from: 05.12.2005


RDS
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence




The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most publications on PRPH2 mutations.


Mutation nomenclature has been adjusted to the Recommendations of the Human Gene Mutation Society.

Mutation map




Map


Polymorphism (TA)n
c.
UTR5'



(34)
Adult vitelliform macular dystrophy Met 1 Thr ATG>ACG c.0002 1 -NlaIII
goto HGMD 179605-0014 (11)
Digenic RP Arg 13 Trp CGG>TGG c.0037 1 -AciI
goto HGMD
(19)
ADRP Arg 13 Trp CGG>AGG c.0037 1 -AciI
goto HGMD
(47)
Retinitis punctata albescens, ad 73delTG AAC TGG>AAC __G c.0073 1 +MaeII, +Psp1406
goto HGMD 179605-0005 (27)
COD Ser 27 Phe TCC>TTC c.0080 1



goto HGMD
(12)
Age related macular dystrophy Ile 32 Val ATC>GTC c.0094 1 -SfaNI
goto HGMD
(24)
ADRP 97insC ATC ATC>ATC CAT C c.0097 1

goto HGMD
(20)
Adult Onset Foveomacular Dystrophy 113delG CTA GGA>CTA _GA c.0113 1



goto HGMD 179605-0016 (67)
Digenic RP Leu 45 Phe CTC>TTC c.0133 1

goto HGMD
(19)
ADRP Leu 45 Phe CTC>TTC c.0133 1 +EcoRI, +ApoI
goto HGMD
(56)
Diffuse retinal degeneration Arg 46 ter CGA>TGA c.0136 1

goto HGMD
(36)
(53)
ADRP Arg 46 ter CGA>TGA c.0136 1

goto HGMD
(35)
ADRP 198GATGG>AAGACAGA GGG ATG GGG>GGA AGA CAG AGG c.0198 1

goto HGMD
(20)
Pattern dystrophy 199delATG GGG ATG GGG>GGG ___ GGG> c.0199 1

goto HGMD
(21)
ADRP Gly 68 Arg GGG>AGG c.0202 1

goto HGMD
(5)
Polymorphism Tyr 83 Tyr TAC/TAT c.0249 1



(3)
Pattern dystrophy 258delACCCAGCC CTG GAC CCA GCC AAG>CTG G__ ___ ___ AAG c.0258 1



(43)
Polymorphism Tyr 101 Tyr TAC/TAT c.0303 1



(6)
Polymorphism Val 106 Val GTC/GTT c.0318 1
Frequency: C=55.4%
T=44
6%


(9)
(4)
ADRP 355delTGC CTC TGC TGC>CTC ___TGC c.0355 1

goto HGMD 179605-0001 (7)
CRD 371delG CTT CGG GGC>CTT C_G GGC c.0371 1



goto HGMD
(33)
CACD Ser 125 Leu TCG>CTT c.0375 1
goto HGMD
(50)
To online reference
ADRP Leu 126 Arg CTG>GTG c.0376 1

goto HGMD
(25)
(53)
ADRP Tyr 141 His TAC>CAC c.0421 1

goto HGMD
(60)
To online reference
ADRP Tyr 141 Cys TAC>TGC c.0422 1

goto HGMD
(66)
(53)
To online reference
Pattern dystrophy 424insTACT TAC TAC CGG>TAC TAC TAC TCG G c.0424 1

goto HGMD 179605-0013 (28)
CACD Arg 142 Trp CGG>TGG c.0424 1

goto HGMD
(18)
(61)
CACD 441delT CCT GGC>CC_ GGC c.0441 1 +MspI, -MvaI
goto HGMD
(59)
To online reference
ADRP Lys 153 Arg AAG>AGG c.0458 1

goto HGMD
(21)
Fundus flavimaculatus 460delAAG AAG AAG AAC>AAG ___ AAC c.0460 1 -MboII
goto HGMD 179605-0017 (63)
Pattern dystrophy Asp 157 Asn GAC>AAC c.0469 1 -TaqI
goto HGMD
(5)
ADRP Cys 165 Tyr TGC>TAC c.0494 1 -BbvI
goto HGMD
(55)
Butterfly shaped pigment dystrophy Gly 167 Asp CGG>CAG c.0500 1 -AciI
goto HGMD 179605-0009 (42)
MD 505delAAC GGC AAC AAC GGT>GGC ___ AAC GGT c.0505 1



goto HGMD
(62)
CRD Gly 170 Ser GGT>AGT c.0508 1
goto HGMD
(12)
To online reference
CACD Arg 172 Gly CGG>GGG c.0514 1

goto HGMD
(42)
MD Arg 172 Trp CGG>TGG c.0514 1

goto HGMD 179605-0007 (40)
(45)
CACD Arg 172 Trp CGG>TGG c.0514 1

goto HGMD 179605-0007 (46)
MD Arg 172 Gln CGG>CAG c.0515 1

goto HGMD 179605-0006 (64)
(53)
ADRP Asp 173 Val GAC>GTC c.0518 1 -BsrI
goto HGMD
(31)
RP Gln 178 Arg CAG>CGG c.0533 1



goto HGMD
(53)
ADRP Trp 179 Arg TGG>CGG c.0535 1 +MspA1I French
Domain appears important for disulfide -linked homodimers and non-covalent interactions to ROM1
goto HGMD
(2)
To online reference
Cone-Rod dystrophy Tyr 184 Ser TAC>TCC c.0551 1

goto HGMD
(38)
(16)
Digenic RP Leu 185 Pro CTG>CCG c.0554 1

goto HGMD
(24)
ADRP Leu 185 Pro CTG>CCG c.0554 1 -MvaI
goto HGMD 179605-0004 (26)
(53)
(16)
Pattern Dystrophy 577delAAA GTC AAA GA gtgag>GTC ___ GA gtgag c.0577 1



goto HGMD
(21)
ADRP 578delAA GTC AAA GA gtgag>GTC A__ GA gtgag c.0578 2

goto HGMD
(22)
(20)
ADRP Microdeletion del ex 2/3 c.0581 2/3

goto HGMD
(13)
CACD Arg 195 Leu CGA>CTA c.0584 2



goto HGMD
(65)
Cone-Rod dystrophy Lys 197 Glu AAG>GAG c.0589 2

goto HGMD
(32)
ADRP Val 200 Glu GTG>GAG c.0599 2



(39)
MD 609del17bp CGG TAC CTG GTG GAC GGC GTC>C__ ___ ___ ___ ___ ___ _TC c.0609 2
goto HGMD
(61)
To online reference
ADRP 616delGTGGACGGCGTC CTG GTG GAC GGC GTC CCT>CTG ___ ___ ___ ___ CCT c.0616 2 -HgaI
goto HGMD
(14)
(53)
CACD Gly 208 Asp GCC>GAC c.0623 2 +MaeII, -HgaI
goto HGMD
(32)
(59)
To online reference
Pattern Dystrophy 624insG GGC>GGGC c.0624 2 -HgaI
goto HGMD
(32)
ADRP Pro 210 Ser CCT>TCT c.0628 2

goto HGMD
(29)
Foveomacular dystrophy Pro 210 Arg CCT>CGT c.0629 2

goto HGMD 179605-0012 (10)
(53)
ADRP Pro 210 Leu CCT>CTT c.0629 2

goto HGMD
(4)
ADRP Phe 211 Leu TTC>TTA c.0633 2 +MseI, -PvuII
goto HGMD
(54)
ADRP Ser 212 Gly AGC>GGC c.0634 2 -AluI, -PvuI, -PvuII
goto HGMD
(8)
Adult vitelliform macular dystrophy Ser 212 Thr AGC>ACC c.0635 2 -AluI
goto HGMD
(11)
Pattern dystrophy Cys 213 Arg TGC>CGC c.0637 2

goto HGMD
(43)
Pattern dystrophy Cys 213 Tyr TGC>TAC c.0638 2



(68)
ADRP Cys 214 Ser TGC>TCC c.0641 2

goto HGMD
(49)
ADRP Cys 214 Tyr TGC>TAC c.0641 2

goto HGMD
(60)
To online reference
ADRP Pro 216 Ser CCT>TCT c.0646 2

goto HGMD
(56)
(53)
ADRP Pro 216 Leu CCT>CTT c.0647 2

goto HGMD 179605-0003 (26)
(53)
ADRP 656delCAC TCG CCA CGG>TCG C__ _GG c.0656 2

goto HGMD 179605-0002 (26)
MD Pro 219 Arg CCA>CGA c.0656 2

goto HGMD
(43)
Pattern dystrophy Arg 220 Trp CGG>TGG c.0658 2

goto HGMD
(44)
(43)
Pattern dystrophy Arg 220 Gln CGG>CAG c.0659 2

goto HGMD
(5)
Adult Vitelliform Macular Dystrophy 673ins37bp ins 37 bp c.0673 2

goto HGMD
(43)
ADRP Gln 226 Asp CAG>GAG c.0676 2



(47)
Pattern dystrophy 701insT TAC>TTAC c.0701 2



(44)
(43)
Polymorphism Tyr 236 Tyr TAC/TAT c.0708 2



(6)
Pattern dystrophy Gln 239 ter CAG>TAG c.0715 2

goto HGMD
(32)
MD Asn 244 His AAC>CAC c.0730 2

goto HGMD
(37)
Cone-Rod dystrophy Asn 244 Lys AAC>AAG c.0732 2

goto HGMD 179605-0011 (37)
ADRP + Bullīs Eye Maculopathy Asn 244 Lys AAC>AAA c.0732 2

goto HGMD 179605-0011 (30)
ADRP Trp 246 Arg TGG>CGG c.0736 2

goto HGMD
(32)
MD Tyr 258 ter TAC>TAA c.0773 2

goto HGMD 179605-0008 (64)
ADRP Gly 266 Asp GGT>GAT c.0797 2

goto HGMD
(25)
(53)
Adult vitelliform macular dystrophy Val 268 Ile GTC>ATC c.0802 2

goto HGMD
(11)
MD 824delTC TTC GAG>T__ GAG c.0824 2 -MboII
goto HGMD
(3)
MD IVS2+22ins7bp ctggg ggtag>ctggg ggtaga gggtag c.0828 IVS2


Polymorphism


(3)
Adult dominant retinal degeneration IVS2+3A>T gtagg>gttgg c.0828 IVS2

goto HGMD
(57)
(51)
(53)
(66)
(58)
Pattern Dystrophy Tyr 285 ter TAC>TAA c.0855 3

goto HGMD
(32)
Cone Dystrophy Ser 289 Leu TCG>TTG c.0866 3

goto HGMD
(32)
Butterfly shaped pigment dystrophy 897delTG TCT GAG>TC_ _AG c.0897 3 -DdeI Ophthalmoscopic similiar to G167D
perifoveal deposits
goto HGMD 179605-0010 (41)
Pseudovitelliform macular dystrophy Glu 302 ter GAG>TAG c.0904 3 +AluI


(1)
Polymorphism Glu 304 Gln GAG/CAG c.0910 3 +BstNI, -MnlI


(23)
(4)
ADRP 914del9bp AGGGCTGGCTGCTGG>AGG_________TGG c.0914 3

goto HGMD
(17)
Adult vitelliform macular dystrophy Gly 305 Asp CGG>CAG c.0914 3 +BsrI
goto HGMD
(11)
ADRP 920delT CTG>C_G c.0920 3 +HaeIII
goto HGMD
(16)
Polymorphism Lys 310 Arg AAG/AGG c.0929 3 -EarI, -MboII


(23)
Polymorphism Pro 313 Leu CCG/CTG c.0938 3 -MspI


(48)
To online reference
Adult vitelliform macular dystrophy Trp 316 ter TGG>TAG c.0947 3 +BstNI
goto HGMD 179605-0015 (11)
Pattern Dystrophy Gln 331 ter CAG>TAG c.0991 3



goto HGMD
(15)
Polymorphism Gly 338 Asp GGC/GAC c.1013 3 -CfoI
goto HGMD
(23)
(4)
(52)
Polymorphism 1426a/g aagtt/aaatt c.1186 3'UTR +DraI


(3)
Polymorphism 1587a/g tacac/tacgc c.1587 3'UTR



(3)
Polymorphism 1806t/c catcc/caccc c.1806 3'UTR -FokI


(3)
Polymorphism 1891del4bp caatc agaca/ca___ _gaca c.1891 3'UTR



(3)
Polymorphism 1942a/c gccaa/gccca c.1942 3'UTR +ScrFI


(3)
Polymorphism 2045a/c caaga/ccaga c.2045 3'UTR



(3)
Polymorphism 2401t/c ctttg/ctctg c.2401 3'UTR



(3)
Polymorphism 2419t/c tagtg/cagtg c.2419 3'UTR



(3)

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.
    Link Goto Top
  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. Link 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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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. Link 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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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. Link 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. Link 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. Link 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.
    Link Goto Top
  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
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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. Link Goto Top
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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