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Scientific Newsletter


Mutation Database
 Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene

Recent update from: 21.04.02

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
RP3 Mutation map




Map


Sequence
0 0

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 of the recent publications of RPGR mutations.


RP3 IVS1+5g-a gagtt-gaatt 0010 IVS01

goto HGMD
(30)
RP3 IVS1+1g-a CCC Ggtg-CCC Gatg 0028 IVS01

goto HGMD
(28)
(24)
(21)
To online reference
Polymorphism IVS1-15g/a ccatc-ccgtc 0029 IVS01



(3)
(24)
RP3 97delA TTT AAA AAT-TTT _AA AAT 0097 02

Previously reported as 160delA

(9)
(10)
CSNB Val 36 Pro GTC-TTC 0106 02

Interaction with PDE6D not abolished

(11)
(14)
RP3 Gly 43 Arg GGA-AGA 0127 02



(24)
(21)
RP3 Gly 43 Glu GGA-GAA 0128 02



(24)
(21)
Polymorphism Ser 47 Ser TCT-TCG 0141 02



(4)
RP3 Gly 52 ter ACC Ggtt-ACC Tgtt 0154 02 -MspI
goto HGMD
(16)
(3)
(12)
RP3 IVS2-2a-g accag GA-accgg GA 0155 IVS02

goto HGMD
(4)
(2)
RP3 IVS3-2a-g cag GA-cgg GA 0155 IVS03 +HpaII


(2)
RP3 Gly 60 Val GGC-GTC 0179 03

goto HGMD
(3)
(8)
(24)
(21)
(9)
(8)
RP3 237delAT AGA TGT-AG_ _GT 0237 03 -NaeII, -NlaIII
previously reported as 296delAT

(18)
(4)
To online reference
RP3 237delAT AGA TGT-AG_ _GT 0237 03 +MaeII, -NlaIII
goto HGMD
(17)
RP3 IVS3-6t-a atttt-atatt 0248 IVS03



(24)
(21)
RP3 His 98 Gln CAC-CAA 0294 04

Abolishes interaction with PDE6D
Lies within conserved part, likely to destroy overall structure 		goto HGMD
(16)
(14)
(25)
RP3 Thr 99 Asn ACC-AAC 0296 04

goto HGMD
(4)
RP3 296insCA CAC ACC CTG-CAC ACC ACC TG 0296 04



(26)
RP3 IVS4+1g-c ACA Ggta-ACA Gcta 0310 IVS04



(24)
(21)
RP3 IVS4+3a-g G gtata-G gtgta 0312 IVS04

goto HGMD
(9) (3)
RP3 355delT CAG TTG-CAG _TG 0355 05

previously reported as
  • 415delT
  • Lys 119del1bp


(24)
(21)
RP3 371delC GAC ACC-GAC A_C 0371 05

previously reported as 430delC 		goto HGMD
(3)
RP3 Arg 127 Gly AGA-GGA 0379 05



(24)
(21)
RP3 Phe 130 Cys TTT-TGT 0389 05

Abolishes interaction with PDE6D
reported as 420T-G 		goto HGMD
(23)
(14)
RP3 Glu 139 ter GAG-TAG 0415 05

previously reported as 474G-T

(25)
RP3 IVS5+1g-a ACT Ggtg-ACT Gttg 0469 IVS5

goto HGMD
(6)
RP3 482delT CTT TTT-C_T TTT 0482 06

previously reported as 545delT 		goto HGMD
(17)
(4)
To online reference
RP3 482delTT CTT TTT ATG-C__ TTT ATG 0482 06

previously reported as
  • 544delTT
  • Phe 162del2bp


(24)
(21)
RP3 Trp 164 ter TGG-TGA 0492 06

goto HGMD
(3)
RP3 Trp 194 ter TGG-TAG 0581 06 +BglII
goto HGMD
(16)
(25)
RP3 Ser 202 ter TCA-TAA 0605 06



(24)
(21)
RP3 IVS6+5g-a aagac-aaaac 0619 IVS06

goto HGMD
(28)
To online reference
Polymorphism IVS6-41t-c catat-cacat 0621 IVS06



(24)
RP3 Gly 215 Val GGA-GTA 0644 07

Abolishes interaction with PDE6D
Lies within conserved part, likely to destroy overall structure 		goto HGMD
(16)
(14)
RP3 Pro 235 Ser CCC-TCC 0703 07

Abolishes interaction with PDE6D
Lies within conserved part, likely to destroy overall structure
reported as 734C-T 		goto HGMD
(23)
(14)
RP3 Gln 236 ter CAG-TAG 0706 07

goto HGMD
(9) (3)
RP3 Lys 244 ter AAG-TAG 0730 07

reported as 789A-T

(9)
(10)
Polymorphism Lys 244 Lys AAG-AAA 0732 07



(4)
(24)
(21)
Pathogenic 746delC GCC TGT-G_C TGT 0747 07

previously reported as
  • 747delC
  • Ala 249del1bp
goto HGMD
(21)
RP3 Cys 250 Arg TGT-CGT 0748 07 +DsaI
Abolishes interaction with PDE6D
Lies within conserved part, likely to destroy overall structure 		goto HGMD
(16)
(14)
(25)
RP3 750delTG TGT GGT-TG_ _GT 0750 07

goto HGMD
(29)
RP3 del Exon 8-10
0778 08

goto HGMD
(3)
RP3 Deletion exon 8 Deletion uncharacterized 0779 08



(28)
To online reference
Possibly pathogenic IVS7-1g-a cag AG-caa AG 0779 IVS07



(21)
RP3 IVS7+5g-a atgtg-atatg 0780 IVS07 -MslI
goto HGMD
(1)
(3)
RP3 Gly 275 Ser GGT-AGT 0823 08

Abolishes interaction with PDE6D
Lies within conserved part, likely to destroy overall structure
reported as 854G-A 		goto HGMD
(23)
(14)
Pathogenic 833delCTTT ACT TTT CTT TTT-A__ __T CTT TTT 0833 08

previously reported as 838delCTTT

(21)
RP3 834delT ACT TTT CTT-AC_ TTT CTT 0834 08

previously reported as 896delT

(24)
Possibly pathogenic 834delTT ACT TTT-AC_ _TT 0834 08

previously reported as Phe279del2bp

(21)
RP3 836del1374bp del ex8+57-IVS8+1317 0836 08



(25)
RP3 Ile 289 Val ATT-GTT 0865 08

goto HGMD
(4)
RP3 869delA GAG AAT-G_G AAT 0869 08

previously reported as 928delA 		goto HGMD
(9) (3)
RP3 869delA GAG AAT-G_G AAT 0869 08

previously reported as 928delA

(24)
RP3 886del15bp GAA ACA ATA AGT TAT ATT-GAA ___ ___ ___ ___ ___ TCT 0886 08



(16)
RP3 Cys 302 Arg TGT-CGT 0904 08 +BssI
goto HGMD
(28)
To online reference
RP3 Cys 302 Tyr TGT-TAT 0905 08



(24)
(21)
Possibly pathogenic Asp 312 Tyr GAT-TAT 0931 08



(21)
Possibly pathogenic Asp 312 Asn GAT-AAT 0931 08



(21)
RP3 IVS8+1g-a ACA Ggta-ACA Gata 0934 IVS08

goto HGMD
(4)
RP3 IVS8+1g-c ACA Ggta-ACA Gcta 0934 IVS08



(16)
(22)
(9)
(10)
RP3 89ldelAA ATA AGT-AT_ _GT 0950 08

previously reported as 950delAA

(28)
To online reference
RP3 del of exon 8-10
0954 08-10

Splice defect and frameshift

(3)
Possibly pathogenic Gly 320 Arg GGA-AGA 0958 09



(21)
RP3 Leu 327 ter TTA-TGA 0980 09



(21)
RP3 Glu 332 ter GAG-TAG 0994 09



(15)
Polymorphism Asn 345 Asp AAT-GAT 1033 09



(24)
(5)
RP3 1088insT GTA GTT TTT GCT-GTA GTT TTT TGC T 1088 10

previously reported as
  • 1151insT
  • 1147insT
  • Ala365ins1bp


(24)
(10)
(21)
RP3 1099delC GCT CCT-GCT _CT 1099 10

previously reported as 1159delC

(24)
(21)
RP3 Glu 374 ter GAA-TAA 1120 10

goto HGMD
(3)
Polymorphism Ala 388 Ala GCG-GCA 1164 10

Silent mutation

(3)
(9)
(4)
(24)
RP3 1243insAG GAG AGG-GAG AGA GG 1243 10

goto HGMD
(29)
RP3 IVS10+3a-g AGG gtaca-AGG gtgca 1245 IVS10 +MwoI
goto HGMD
(9)
RP3 IVS10+16a-g ctatt-ctgtt 1245 IVS10



(3)
(24)
Polymorphism IVS10-13delC tgcct-tg_ct 1246 IVS10



(24)
RP3 1261del19bp GAT TCT TTT TCA ATG AGG AGA ACA-GAT ___ ___ ___ ___ ___ ___ _CA 1261 11

goto HGMD
(3)
Polymorphism Arg 425 Lys AGG-AAG 1274 11



(3)
(24)
Polymorphism Ile 431 Val ATA-GTA 1291 11



(3)
(24)
RP3 Gly 436 Asp GGC-GAC 1307 11



(9)
(10)
(24)
(21)
RP3 1376delTC GTC TTA-G__ TTA 1376 11

previously reported as 1435delTC 		goto HGMD
(24)
(21)
RP3 1402delCCAG CAG CCA GAG - CAG ___ _AG 1402 10

reported as 1433del4bp 		goto HGMD
(23)
RP3 1476delC AGC CTT-AG_ CTT 1476 12

previously reported as 1536delC

(15)
RP3 Asn 493 Lys AAT-AAA 1478 ORF15



(19)
Polymorphism IVS12-92delTA atataatt-ata__att 1507 IVS12



(24)
Polymorphism IVS12-101t/aa atatata-ataaaata 1507 IVS12



(24)
Polymorphism IVS12-97t/c tatat-tacat 1507 IVS12



(3)
(24)
Polymorphism IVS12-104delAAAT taaaa atata-taa__ __ata 1507 IVS12



(24)
Polymorphism IVS12-68t/c tgtac-tgcac 1507 IVS12



(3)
RP3 1508delCA ACA CAC-A__ CAC 1508 13

reported as 1571delCA 		goto HGMD
(3)
(7)
Polymorphism IVS13+11a/g tgaag-tggag 1572 IVS13

goto HGMD
(3)
(24)
RP3 del Exon 14 - 15
1573 14-15



(16)
RP3 IVS13-2a-g tacag AAA-tacgg AAA 1573 IVS13



(4)
RP3 IVS13-1g-a cagAAA-caaAAA 1573 IVS13



(24)
(21)
RP3 IVS13-8a-g aaatt-aagtt 1573 IVS13 -ApoI
goto HGMD
(9)
RP3 1575del ACAA CAA ACA ATT-CAA ___ _TT 1575 14

previously reported as 1641delACAA 		goto HGMD
(21)
(3)
(24)
Possibly pathogenic 1576delCAA AAA CAA CAA ACA-AAA ___ CAA ACA 1576 14

previously reported as 1579delCAA

(21)
Possibly pathogenic Thr 533 Met ACG-ATG 1598 14



(21)
Non pathogenic Ile 559 Val ATA-GTA 1677 ORF15



(21)
Polymorphism Gly 566 Glu GGG-GAG 1697 14



(3)
(21)
(24)
Pathogenic Glu 583 ter GAA-TAA 1747 15



(21)
RP3 18332insA GAG GAA AAT-GAG GAA AAA T 1832 15

previously reported as
  • 1894insA
  • Asn 612ins1bp


(24)
(21)
RP3 del Exon 15a
1905 15

goto HGMD
(23)
RP3 Deletion of exon 15a and adjacent sequences del exon 15 a 1908 IVS15

Loss of 169 AA including isoprenylation site

(13)
RP3 Gln 670 ter CAA-TAA 2008 ORF15

previously reported as Q85X (255C-T)

(19)
Polymorphism Glu 685 Glu GAA-GAG 2055 ORF15

previously reported as L100L (303A-G)

(21)
Possibly pathogenic Lys 694 ter AAG-TAG 2080 ORF15

previously reported as L109X (328A-T)

(21)
Pathogenic 2106delGAAG TGG AAG AAG AGG-TG_ ___ AAG AGG 2106 ORF15

previously reported as 356delGAAG

(21)
Possibly pathogenic 2110ins4bp AAG AGG-AAG NNN NAG G 2110 ORF15

previously reported as K119ins4bp

(21)
RP3 2144dup73bp AGGGAGCAG GGCCATCAG AAGGAAAGA AACCAAGAG ATGGAGGAG GGAGGGGAG GAGGAGCAT GGAGAAGGA GAA - Agggagcag ggccatcag aaggaaaga aaccaagag atggaggag ggaggggag gaggagcat ggagaagga gaGGGAGCA GGGCCATCA GAAGGAAAG AAACCAAGA GATGGAGGA GGGAGGGGA GGAGGAGCA TGGAGAAGG AGAA 2144 ORF15
Frameshift duplication
previously reported as ORF15+391dup73bp

(25)
Polymorphism IVS17+46c/t cacac-cataca 2151 IVS17



(24)
Possibly pathogenic Glu 740 ter GAA-TAA 2218 ORF15

previously reported as E155X (465G-T)

(21)
Polymorphism Glu 741 Glu GAG-GAA 2223 ORF15

previously reported as E156E (470G-A)

(21)
Polymorphism Glu 742 Glu GAG-GAA 2226 ORF15

previously reported as E157E (470G/A)

(19)
RP3 2239delGA GAA GAG-GAA __G 2239 ORF15

previously reported as ORF15+483delGA (E161del2bp)

(25)
(21)
RP3 IVS18+11t-c aatga-aacga 2241 IVS18



(3)
(9)
(24)
Pathogenic 2234delGAGA GAC AGA GAA-GAC A__ __A 2243 ORF15

previously reported as 481delGAGA (E161del4bp)

(21)
RP3 Glu 749 ter GAA-TAA 2245 ORF15

previously reported as ORF15+492G-T

(25)
Pathogenic 2248delA GAA GAG AAG-GAA __G AAG 2248 ORF15

previously reported as 585delA

(21)
Polymorphism Gly 753 Gly GGA-GGT 2259 ORF15

previously reported as G488G (1466A/T)

(19)
Possibly pathogenic Glu 754 ter GAA-TAA 2260 ORF15

previously reported as E169X (507G-T)

(21)
Possibly pathogenic 2269delGA AAA GAG-AAA __G 2269 ORF15

previously reported as E172del2bp

(21)
RP3 2311delG AAG GAG-AAG _AG 2311 ORF15

previously reported as 557delG

(19)
RP3 2318ins14bp GAA GGA-GAA GGN NNN NNN NNN NNN NAG 2318 ORF15

previously reported as 564ins14bp

(19)
Pathogenic 2320delGA GAG GAA-GAG __A 2320 ORF15

previously reported as 516delAG

(21)
Polymorphism Arg 780 Arg AGA-AGG 2340 ORF15

previously reported as ORF15+648G/A

(25)
Non pathogenic Ala 781 Thr GCG-GAG 2342 ORF15

previously reported as A196T

(19)
(21)
Pathogenic 2356delAA GAG AAA GGA-GAG __A GGA 2356 ORF15

previously reported as K201del2bp (604delAA)

(21)
RP3 2357del19bp GAG AAA GGA GAG GAA GAA GGA GAC CAA-GAG A__ ___ ___ ___ ___ ___ __C CAA 2357 ORF15

previously reported as 604del19bp

(19)
RP3 2400del AA GAA ACA-GA_ _CA 2400 ORF15

previously reported as ORF15+647delAA

(25)
Pathogenic 2403delAGAG GAA ACA GAG GGG-GAA AC_ ___ GGG 2403 ORF15

previously reported as T216del4bp (651delAGAG)

(21)
RP3 2405delAG GAG GGG-G__GGG 2405 ORF15

previously reported as ORF15+652delAG

(25)
(19)
Pathogenic 2412delAG AGA GGG-AG_ _GGG 2412 ORF15

previously reported as R219del2bp (657delAG)

(21)
RP3 2426delAG GAG GAG-G__ GAG 2426 ORF15

previously reported as ORF15+673delAG

(25)
RP3 2442delAGAG GTA GAG GGA-GT_ ___ GGA 2442 ORF15

previously reported as ORF15+689del4bp

(25)
Polymorphism 2447del15bp GAG GAA GAA GGG GAG GAA GGA-GAG ___ ___ ___ ___ ___ GGA 2447 ORF15

prevously reported as ORF15+694del15bp

(25)
COD1? 2447del15bp GAG GAA GAA GGG GAG GAA GGA-GAG ___ ___ ___ ___ ___ GGA 2447 ORF15

prevously reported as ORF15+694del15bp

(27)
RP3 2496insG GAG GAG GGT-GAG GGA GGG T 2496 ORF15

previously reported as ORF15+753insG

(20)
RP3 2522delA GAG GGG-G_G GGG 2522 ORF15

previously reported as ORF15+769delA

(25)
Polymorphism 2541del21bp GGG GAG GGG GAA GAG GAG GAA GGA-GG_ ___ ___ ___ ___ ___ ___ __A 2541 ORF15

previously reported as ORF15+788del21bp

(25)
RP3 Glu 853 ter GAA-TAA 2557 ORF15

previously reported as ORF15+804G-T

(25)
RP3 2584delGG GAA GGG GAA-GAA __G GAA 2584 ORF15

previously reported as ORF15+833delGG

(20)
Polymorphism 2605del15bp GAG GAA GAA GGG GAG GAA GGA-GAG ___ ___ ___ ___ ___ GGA 2605 ORF15

previously reported as ORF15+853del15bp
compound

(25)
RP3 2611insGG GAA GGG GAG-GAA GGG GGG AG 2611 ORF15

previously reported as ORF15+861insGG

(20)
RP3 2626insA GAA GGG-GAG AGG G 2626 ORF15

previously reported as ORF15+872insA

(25)
RP3 Glu 884 ter GAA-TAA 2650 ORF15

previously reported as ORF15+897G-T

(25)
Polymorphism 2667delGGA GAG GAA-GA_ __A 2667 ORF15

previously reported as ORF15+914delGGA

(25)
RP3 2728delGG GGG GAG-__G GAG 2728 ORF15

previously reported as ORF15+977delGG

(25)
RP3 2761delGG AAA GGG GAG-AAA __G GAG 2761 ORF15

previously reported as ORF15+1010delGG

(25)
Polymorphism 2820dup21bp GAA GGG GAG GAT GGA GAA GGG GAG-GAA GGG GAG GAT GGA GAA GGG GAA GGG GAG GAT GGA GAA GGG GAG 2820 ORF15
In frame duplication
previously reported as ORF15+1067dup21bp

(25)
RP3 2894delA GGG GAG GGG-GGG G_G GGG 2894 ORF15

previously reported as ORF15+1141delA

(25)
Polymorphism 2925dup21bp GAA GGG GAA GGG GAG GAA GGA GAA GGG GAG-GAA GGG GAA GGG GAG GAA GGA GAA GGG GAA GGG GAA GGG GAG GAA GGA GAA GGG GAG 2925 ORF15
In-frame-duplication
previously reported as ORF15+1165dup21bp

(25)
RP3 2992delGAAGG GAG GAA GGG-GAG ___ __G 2992 ORF15

previously reported as ORF15+1239del5bp

(25)
RP3 3062delAG GAA GAG GAA-GAA G__ GAA 3062 ORF15

previously reported as ORF15+1297delAG

(25)
Polymorphism 3072del12bp GAA GTG GAA GGG GAG-GA_ ___ ___ ___ __G 3072 ORF15

previously reported as ORF15+1307del12bp

(25)
(19)
(21)
Polymorphism 3086del12bp GTG GAA GGG GAG GAA-G__ ___ ___ ___ _AA 3086 ORF15

previously reported as ORF15+1321del12bp

(25)
COD1 3101delAG GGA GAG-GG_ _AG 3101 ORF15

previously reported as 1339delAG

(5)
Pathogenic 3102delA GGA GAA GAA-GGA GA_ GAA 3102 ORF15

prviously reported as1340delA

(21)
COD1 3105delAG GAG GGG GAA-GAG __G GAA 3105 ORF15

previously reported as 1343delGG

(5)
(27)
RP3 3105delG GGA GAG GGG GAA-GGA GA_ GGG GAA 3105 ORF15

previously reported as ORF15+1344delG

(25)
Polymorphism Gly 1077 Gly GGC-GGT 3231 ORF15

previously reported as ORF15+1466C/T

(25)
Possibly pathogenic Asn 1081 Lys AAT-AAA 3243 ORF15

previously reported as N492K (T-A)

(21)
Polymorphism Val 1092 Val GTG-GTA 3246 ORF15

previoisly reported as V503V (1512G/A)

(19)
COD1 3323insA TAT CAA AAA AAG TCA-TAT CAA AAA AAA GTC A 3323 ORF15

previously reported as 1564insA

(5)
Polymorphism Asn 1136 Asn AAT-AAC 3408 ORF15

previously reported as N547N (1043T-C)

(21)

References

  1. Bauer,P.H., Bluml,K., Schroder,S., Hegler,J., Dees,C., and Lohse,M.J. Interactions of phosducin with the subunits of G-proteins. Binding to the alpha as well as the betagamma subunits. 1998; J.Biol.Chem. 273: 9465-9471.
    Link to PubMed
    Goto Top

  2. Blasi,M.A., Grammatico,P., Rinaldi,R., Grammatico,B., Sasso,P., D'Urso,M., Miano,M.G., and Balestrazzi,E. Genotype-phenotype correlation in X-linked retinitis pigmentosa family with a novel mutation in RPGR gene. 2001; Invest Ophthalmol.Vis.Sci. 42: S641
    Goto Top

  3. Buraczynska,M., Wu,W., Fujita,R., Buraczynska,K., Phelps,E., Andreasson,S., Bennett,J., Birch,D.G., Fishman,G.A., Hoffman,D.R., Inana,G., Jacobson,S.G., Musarella,M.A., Sieving,P.A., and Swaroop,A. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. 1997; Am.J.Hum.Genet. 61: 1287-1292.
    Link to PubMed
    Goto Top

  4. D'Urso,M., Miano,M.G., Testa,F., Simonelli,F., Baiget,M., and Ciccodicola,A. Mutation Analysis In Patients With X-Linked Retinitis Pigmentosa. 1999; Invest.Ophthalmol.Vis.Sci. 40: S469
    Goto Top

  5. Demirci,F.Y., Rigatti,B.W., Wen,G., Radak,A.L., Mah,T.S., Baic,C.L., Traboulsi,E.I., Alitalo,T., Ramser,J., and Gorin,M.B. X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15. 2002; Am.J.Hum.Genet. 70: 1049-1053.
    Link to PubMed
    Goto Top

  6. Dry,K.L., Manson,F.D., Lennon,A., Bergen,A.A., van Dorp,D.B., and Wright,A.F. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). 1999; Hum.Mutat. 13: 141-145.
    Link to PubMed
    Goto Top

  7. Fishman,G.A., Grover,S., Buraczynska,M., Wu,W., and Swaroop,A. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. 1998; Arch.Ophthalmol. 116: 213-218.
    Link to PubMed
    Goto Top

  8. Fishman,G.A., Grover,S., Jacobson,S.G., Alexander,K.R., Derlacki,D.J., Wu,W., Buraczynska,M., and Swaroop,A. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. 1998; Ophthalmology. 105: 2286-2296.
    Link to PubMed
    Goto Top

  9. 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.
    Link to PubMed
    Goto Top

  10. Guevara-Fujita,M., Fahrner,S., Buraczynska,K., Cook,J., Wheaton,D., Cortes,F., Vicencio,C., Pena,M., Fishman,G., Mintz-Hittner,H., Birch,D., Hoffman,D., Mears,A., Fujita,R., and Swaroop,A. Five novel RPGR mutations in families with X-linked retinitis pigmentosa. 2001; Hum.Mutat. 17: 151
    Link to PubMed
    Goto Top

  11. Herrmann,K., Meindl,A., Apfelstedt-Sylla,E., Wissinger,B., Ciccodicola,A., Lorenz,B., Wittwer,B., Hegersberg,M., D'Urso,M., and Meitinger,T. RPGR mutation analysis in patients with retinitis pigmentosa and congenital night blindness. 1996; Am.J.Hum.Genet. 59: A263
    Goto Top

  12. Jacobson,S.G., Buraczynska,M., Milam,A.H., Chen,C., Jarvalainen,M., Fujita,R., Wu,W., Huang,Y., Cideciyan,A.V., and Swaroop,A. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. 1997; Invest Ophthalmol.Vis.Sci. 38: 1983-1997.
    Link to PubMed
    Goto Top

  13. Kirschner,R., Rosenberg,T., Schultz-Heienbrok,R., Lenzner,S., Feil,S., Roepman,R., Cremers,F.P., Ropers,H.H., and Berger,W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X- linked retinitis pigmentosa. 1999; Hum.Mol.Genet. 8: 1571-1578.
    Link to PubMed
    Goto Top

  14. Linari,M., Ueffing,M., Manson,F., Wright,A., Meitinger,T., and Becker,J. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. 1999; Proc.Natl.Acad.Sci.U.S.A. 96: 1315-1320.
    Link to PubMed
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  15. Liu,L., Jin,L., Liu,M., Wei,Y., Wu,Y., Liu,Y., Wang,H., Chu,R., and Chai,J. Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa. 2000; Hum.Mutat.Online.
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    Human Mutation Online
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  16. 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.
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  17. Miano,M.G., Valverde,D., Solans,T., Grammatico,B., Migliaccio,C., Cirigliano,V., DeBernardo,C., Ventruto,V., Meitinger,T., Wright,A., Del Porto,G., Baiget,M., D'Urso,M., and Ciccodicola,A. Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. 1998; Hum.Mutat. 12: 212-213.
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  18. Miano,M.G., Valverde,D., Solans,T., Grammatico,B., Migliaccio,C., Cirigliano,V., DeBernardo,C., Ventruto,V., Meitinger,T., Wright,A., Del Porto,G., Baiget,M., D'Urso,M., and Ciccodicola,A. Two novel mutations in the rteinitis Pigmentosa GTPase Regilator (RPGR) gene in X-linked retinitis pigmentosa (RP3). 1998; Hum.Mutat. Online:
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  19. Miano,M.G., Vervoort,R., Conte,I., Zullo,A., Lanzara,C., Circolo,D., D'Urso,M., Ayuso,C., Wright,A., and Ciccodicola,A. Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. 2001; Invest Ophthalmol.Vis.Sci. 42: S641
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  20. Nao-i,N., Yokoyama,A., Maruiwa,F., Hayakawa,M., Kanai,A., Vervoort,R., Wright,A.F., Yamada,K., and Niikawa,N. Novel Mutations Of RPGR Gene Exon Orf 15 In Japanese Families With X-Linked Retinitis Pigmentosa. 2001; Invest Ophthalmol.Vis.Sci. 42: S642
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  21. Rabe,V.W., Sharon,D., Berson,E.L., and Dryja,T.P. The Mutation Spectrum Of RPGR-ORF15 In North American Patients With X-Linked Retinitis Pigmentosa (XLRP). 2001; Invest Ophthalmol.Vis.Sci. 42: S642
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  22. Roepman,R., Bauer,D., Rosenberg,T., van Duijnhoven,G., van Vosse,E., Platzer,M., Rosenthal,A., Ropers,H.H., Cremers,F.P., and Berger,W. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). 1996; Hum.Mol.Genet. 6: 827-833.
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  23. Roepman,R., van Duijnhoven,G., Rosenberg,T., Pinckers,A.J., Bleeker Wagemakers,L.M., Bergen,A.A.B., Post,J., Beck,A., Reinhardt,R., Ropers,H.H., Cremers,F.P., and Berger,W. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 1996; Hum.Mol.Genet. 5: 1035-1041.
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  24. Sharon,D., Bruns,G.A., McGee,T.L., Sandberg,M.A., Berson,E.L., and Dryja,T.P. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 2000; Invest Ophthalmol.Vis.Sci. 41: 2712-2721.
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  25. Vervoort,R., Lennon,A., Bird,A.C., Tulloch,B., Axton,R., Miano,M.G., Meindl,A., Meitinger,T., Ciccodicola,A., and Wright,A.F. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 2000; Nat.Genet. 25: 462-466.
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  26. Weleber,R.G., Butler,N.S., Murphey,W.H., Sheffield,V.C., and Stone,E.M. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. 1997; Arch.Ophthalmol. 115: 1429-1435.
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  27. Yang,Z., Peachey,N.S., Moshfeghi,D.M., Thirumalaichary,S., Chorich,L., Shugart,Y.Y., Fan,K., and Zhang,K. Mutations in the RPGR gene cause X-linked cone dystrophy. 2002; Hum.Mol.Genet. 11: 605-611.
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  28. Zito,I., Gorin,M.B., Plant,C., Bird,A.C., Bhattacharya,S.S., and Hardcastle,A.J. Novel mutations of the RPGR gene in RP3 families. 2000; Hum Mutat.Online. 15: 386
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  29. Zito,I., Thiselton,D.L., Gorin,M., Bird,A.C., Bhattacharya,S.S., and Hardcastle ,A.J. New Mutations in RPGR and RP2 and a New Locus for X-linked Retinitis Pigmentosa. 1999; Am.J.Hum.Genet. 65: A502
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  30. Zito,I., Thiselton,D.L., Gorin,M.B., Stout,J.T., Plant,C., Bird,A.C., Bhattacharya,S.S., and Hardcastle,A.J. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. 1999; Hum.Genet. 105: 57-62.
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Dr. rer. medic. Markus Preising, Dipl.Biol.
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University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz