The Human Retinitis Pigmentosa GTPase Regulator Gene Variant Database

Summary of RPGR mutations and polymorphisms

Table 1Summary of all reported RPGR mutation in exons

Exons 2-14

Nucleotide change Effect Exon Syndrome Reference

c.33delG (92delG) p.G12fs 2 XLRP Bader et al. 2003

c.101delA (160delA) p.N34fs 2 XLRP Guevara-Fujita et al. 2001

c.122C>G (181C>G) p.S41X 2 XLRP Pelletier et al. 2007

c.127G>A (186G>A) p.G43R 2 XLRP Sharon et al. 2000

c.128G>A (187G>A) p.G43E 2 XLRP Sharon et al. 2000

c.154G>A (213G>A) splice defect 2 XLRP Demirci et al. 2002;

Pelletier et al. 2007

c.154G>T (213G>T) p.G52X 2 XLRP Meindl et al. 1996; Jacobson et

al. 1997; Bader et al. 2003

c.179G>T (238G>T) p.G60V 3 XLRP Buraczynska et al. 1997;

Fishman et al. 1998b; Sharon et al. 2000

c.194G>T (253G>T) p.G65V 3 XLRP Pelletier et al. 2007

c.194delG (253delG) p.W64fs 3 XLRP Shu et al. 2007

c.237_238delAT (296_297delAT) p.T79fs 3 XLRP Miano et al. 1998

c.274_277dup4 (333_336dup4) p.A93fs 4 XLRP Chung et al. 2003

c.294C>A (353C>A) p.H98Q 4 XLRP Meindl et al.1996;

Vervoort et al. 2000

c.295insCA (354insCA) p.T99fs 4 XLRP Weleber et al. 1997

c.296C>A (355C>A) p.T99N 4 XLRP Miano et al. 1999

c.323_328del6 (382_387del6) p.V108_Y109del 5 XLRP Pelletier et al. 2007

c.350G>A (409G>A) p.G117E 5 XLRP Shu et al. 2007

c.356delT (415delT) p.L119fs 5 XLRP Sharon et al. 2000

c.371delC (430delC) p.T124fs 5 XLRP Buraczynska et al. 1997

c.379A>G (438A>G) p.R127G 5 XLRP Sharon et al. 2000;

Breuer et al. 2002

c.390T>G (449T>G) p.F130C 5 XLRP Roepman et al. 1996b

c.408delT (467delT) p.F135fs 5 XLRP Shu et al. 2007

c.415G>T (474G>T) p.E139X 5 XLRP Vervoort et al. 2000;

Breuer et al. 2002

c.455C>T (514C>T) p.S152L 5 XLRP Bader et al. 2003

c.482delT (541delT) p.L161fs 6 XLRP Miano et al. 1999

Garcia-Hoyos et al. 2006

c.482_483delTT (541_542delTT) p.L161fs 6 XLRP Breuer et al. 2002

c.485_486delTT (544_545delTT) p.F162fs 6 XLRP Sharon et al. 2000

c.486delT (545delT) p.F162fs 6 XLRP Miano et al. 1998

c.492G>A (551G>A) p.W164X 6 XLRP Buraczynska et al. 1997;

Breuer et al. 2002

c.494G>T (553G>T) p.G165V 6 XLRP Shu et al. 2007

c.517G>C (576G>C) p.G173R 6 XLRP, ROM, RUTI Iannaccone et al. 2003

hearing loss Breuer et al. 2002

c.581G>A (640G>A) p.W194X 6 XLRP Meindl et al. 1996;

Vervoort et al. 2000

c.583A>G (642A>G) p.I195V 6 XLRP Pelletier et al. 2007

c.605C>A (664C>A) p.S202X 6 XLRP Sharon et al. 2000

c.618_621del4 (677_680del4) splice defect 6 XLRP Bader et al. 2003

c.629_639del11 (688_698del11) p.E210fs 7 XLRP Breuer et al. 2002

c.644G>T (703G>T) p.G215V 7 XLRP Meindl et al. 1996;

Bader et al. 2003

c.697_724del28 (756_783del28) p.R233fs 7 XLRP Zhao et al. 2001

c.703C>T (762C>T) p..P235S 7 XLRP Roepman et al. 1996b

c.706C>T (765C>T) p.Q236X 7 XLRP Buraczynska et al. 1997

c.730A>T (789A>T) p.K244X 7 XLRP Guevara-Fujita et al. 2001

c.747delC (806delC) p. A249fs 7 XLRP Sharon et al. 2003

c.748T>C (807T>C) p.C250R 7 XLRP Meindl et al. 1996;

Vervoort et al. 2000

c.749G>A (808G>A) p.C250Y 7 XLRP Breuer et al. 2002

c.749_750delGT (808_809delGT) p.C250fs 7 XLRP Zito et al. 1999

c.752_753delTG (812_813delTG) p.G252fs 7 XLRP Pelletier et al. 2007

c.764C>T p.T255I 7 XLRP Prokisch et al. 2007

c.771_773delTCT (830_832delTCT) p.L258del 7 XLRP Breuer et al. 2002

c.786_787delTG (845_846delTG) p.A262fs 8 XLRP, impaired hearing Zito I ,et al. 2003

sinorespiratory

c.799G>A (858G>A) p.G267R 8 XLRP Breuer et al. 2002

c.800G>A (859G>A) p.G267E 8 XLRP Pelletier et al. 2007

c.814G>A (873G>A) p.G272S 8 XLRP Pelletier et al. 2007

c.817C>T (876C>T) p.Q273X 8 XLRP Shu et al. 2007

c.823G>A (882G>A) p.G275S 8 XLRP Roepman et al. 1996;

Sharon et al. 2005;

Banin et al. 2007

Pelletier et al. 2007;

Prokisch et al. 2007

c.837delT (896delT) p.F279fs 8 XLRP Sharon et al. 2000

c.838_842del5 (897_901del5) p.L280fs 8 XLRP Sharon et al. 2003

c.865A>G(924A>G) p.I289V 8 XLRP Miano et al. 1999;

Breuer et al. 2002

c.869delA (928delA) p.E290fs 8 XLRP Buraczynska et al. 1997;

Sharon et al. 2000

c.886_900del15 (945_959del15) p.T296-I300del5 8 XLRP Meindl et al. 1996;

Bader et al. 2003

c.891_892delAA (950_951delAA) p.I297fs 8 XLRP Zito et al. 2000a

c.904T>C (963T>C) p.C302R 8 XLRP Zito et al. 2000a

c.905G>A (964G>A) p.C302Y 8 XLRP Sharon et al. 2000

c.934G>A (993G>A) p.D312N 8 XLRP Sharon et al. 2003

c.934G>T (993G>T) p.D312Y 8 XLRP Sharon et al. 2003

c.958G>A (1017G>A) p.G320R 9 XLRP Sharon et al. 2003

c.980T>G (1039T>G) p.L327X 9 XLRP Sharon et al. 2003

c.994G>T (1053G>T) p.E332X 9 XLRP Liu et al. 2000

c.1088_1089insT (1147_1148insT) p.V363fs 10 XLRP Guevara-Fujita et al. 2001

c.1092_1093insT (1151_1152insT) p.A365fs 10 XLRP Sharon et al 2000

c.1100delC (1159delC) p.P367fs 10 XLRP Sharon et al. 2000

c.1117A>T (1176A>T) p.K373X 10 XLRP Garica-Hoyos et al.2006

c.1120G>T (1179G>T) p.E374X 10 XLRP Buraczynska et al. 1997

c.1135G>T (1194G>T) p.E379X 10 XLRP Shu et al. 2007

c.1175delC (1234delC) p.P392fs 10 XLRP Pelletier et al. 2007

c.1179T>G p.Y393X 10 XLRP Prokisch et al. 2007

c.1216_1217delCT (1275_1276delCT) p.L406fs 10 XLRP Bader et al. 2003;

Pelletier et al. 2007

c.1234C>T (1293C>T) p.R412X 10 XLRP Breuer et al. 2002

c.1238_1239insAC (1297_1298insAG) p.R413fs 10 XLRP Zito et al. 1999

c.1242_1243delGA (1301_1302delGA) p.E414fs 10 XLRP Koenekoop et al. 2003

c.1261_1279del19 (1320_1338del19) p.S421fs 11 XLRP Buraczynska et al. 1997

c.1307G>A (1366G>A) p.G436D 11 XLRP Guevard-Fujita et al.2001;

Sharon et al. 2000; Breuer et al.

2002

c.1345C>T (1404C>T) p.R449X 11 XLRP Breuer et al. 2002; Demirci et

al. 2003

c.1372_1373delAG (1431_1432delAG) p.S458fs 11 XLRP Breuer et al. 2002

c.1376_1377delTC (1435_1436delTC) p.V459fs 11 XLRP Zito et al. 1999; Sharon et al.

2000

c.1399C>T p.Q467X 11 XLRP Prokisch et al. 2007

c.1402_1405del4 (1461_1464del4) p.P468fs 11 XLRP Roepman et al. 1996

Prokisch et al. 2007

c.1477delC (1536delC) p.L493fs 12 XLRP Liu et al. 2000; Prokisch et al. 2007

c.1512_1513delCA (1571_1572delCA) p.H504fs 13 XLRP Buraczynska et al. 1997;

Fishman et al. 1998a

c.1582_1585del4 (1641_1644del4) p.T528fs 14 XLRP Buraczynska et al.1997;

Sharon et al. 2000

c.1628_1629insAACGATGA p.D543fs 14 XLRP Prokisch et al. 2007

c.1685_1686delAT (1744_1745delAT) p.H562fs 14 XLRP Breuer et al. 2002;

Pelletier et al. 2007

c.1747G>T (1806G>T) p.E583X 14 XLRP Sharon et al. 2003

c.1765G>T p.E589X ORF15 XLRP Shu et al. 2007

(g.ORF15+12G>T) (p.ORF15+E4X)

c.1835_1836insA p.N612fs ORF15 XLRP Sharon et al. 2000

(g.ORF15+82_83insA) (p.ORF15+N27fs)

c.1869_1870delAG p.T623fs ORF15 XLRP Bader et al. 2003

(g.ORF15+116_117delAG) (p.ORF15+T38fs)

c.1872_1873delGA p.E624fs ORF15 XLRP Pusch et al. 2002

(g.ORF15+119_120delGA) (p.ORF15+E39fs)

c.1926_1927insA p.S643fs ORF15 XLRP/XLCRD Vervoort et al 200;

(g.ORF15+173_174insA) (p.ORF15+S58fs) Mears et al. 2000

c.1928C>G p.S643X ORF15 XLRP Shu et al. 2007

(g.ORF15+175C>G) (p.ORF15+S58X)

c.1938_1939insAGAGG p.A646fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+185_186insAGAGG) (p.ORF15+A61fs)

c.1952_1953insT p.P651fs ORF15 XLRP Itabashi et al. 2004

(g.ORf15+199_200insT) (p.ORF15+P66fs)

c.2002delC p.H668fs ORF15 XLRP Itabash et al. 2004

(g.ORF15+249delC) (p.ORF15+H83fs)

c.2007G>A p.W669X ORF15 XLRP Bader et al. 2003

(g.ORF15+254G>A) (p.ORF15+W84X)

c.2049_2128dup80 p.Q710fs ORF15 XLRP Shu et al. 2007

(g.ORF15+296_375dup80) (p.ORF15+Q125fs)

c.2080A>T p.K694X ORF15 XLRP Breuer et al. 2002

(g.ORF15+327A>T) (p.ORF15+K109X)

c.2105_2213dup109 p.G738fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+352_460dup109) (p.ORF15+G153fs)

c.2109_2110insGAAG p.K704fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+356_357insGAAG) (p.ORF15+K119fs)

c.2122G>T p.E708X ORF15 XLRP Breuer et al. 2002

(g.ORF15+369G>T) (p.ORF15+E123X)

c.2144_2216dup73 p.E739fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+391_463dup73) (p.ORF15+E154fs)

c.2146G>T p.E716X ORF15 XLRP Breuer et al. 2002

(g.ORF15+393G>T) (p.ORF15+E131X)

c.2148_2149ins356 p.E716_Q717ins22aa ORF15 XLRP Prokisch et al. 2007

c.2153delG p.G718fs ORF15 XLRP Roux et al. Unpublished

c.2155_2156insC p.H719fs ORF15 XLRP Bader et al. 2003

(g.ORF15+402_403insC) (p.ORF15+H134fs)

c.2167delA p.E721fs ORF15 XLRP Pusch et al. 2002;

(g.ORF15+414delA) (p.ORF15+E136fs) Bader et al. 2003

c.2171delA p.N724fs ORF15 XLRP Prokisch et al. 2007

c.2173C>T p.Q725X ORF15 XLRP Pusch et al. 2003

(g.ORF15+420C>T) (p.ORF15+Q140X)

c.2176G>T p.E726X ORF15 XLRP Breuer et al. 2002

(g.ORF15+423G>T) (p.ORF15+E141X)

c.2185delG p.E729fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+432delG) (p.ORF15+E144fs)

c.2187delG p.E729fs ORF15 XLDRP Rozet et al. 2002

(g.ORF15+434delG) (p.ORF15+E144fs)

c.2189delG p.G730fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+436delG) (p.ORF15+G145fs)

c.2218G>T p.E740X ORF15 XLDRP Rozet et al. 2002

(g.ORF15+465G>T) (p.ORF15+E155X) Pelletier et al. 2007

c.2233_2234delAG p.R745fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+480_481delAG) (p.ORF15+R160fs)

c.2234_2235delGA p.R745fs ORF15 XLDRP Rozet et al. 2002

(g.ORF15+481_482delGA) (p.ORF15+R160fs)

c.2234_2237delGAGG p.R745fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+481_484delGAGA) (p.ORF15+R160fs) Garcia-Hoyos et al. 2006

c.2235_2236delAG p.R745fs ORF15 XLRP Jin et al. 2005

(g.ORF15+482_483delAG) (p.ORF15+R160fs)

c.2236_2237delGA p.E746fs ORF15 XLRP, Vervoort et al. 2000;

(g.ORF15+483_484delGA) (p.ORF15+E161fs) XLDRP Breuer et al. 2002; Rozet

et al. 2002; Bader et al. 2003;

Chung et al. 2003; Li et al. 2005;

Jin et al. 2006; Pelletier et al. 2007

c.2241_2242delGG p.E748fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+488_489delGG) (p.ORF15+E163fs)

c.2245G>T p.E749X ORF15 XLRP Vervoort et al. 2000

(g.ORF15+492G>T) (p.ORF15+ E164X)

c.2252_2255delAGGA p.K751fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+499_502delAGGA) (p.ORF15+K166fs)

c.2256_2259delGGGA p.E752fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+503_506delGGGA) (p.ORF15+E167fs)

c.2257_2260delGGAG p.G753fs ORF15 XLRP Bader et al. 2003

(g.ORF15+504_507delGGAG) (p.ORF15+G168fs)

c.2260G>T p.E754X ORF15 XLRP Breuer et al. 2002

(g.ORF15+507G>T) (p.ORF15+ E169X)

c.2270_2271delAG p.E757fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+517_518delAG) (p.ORF15+E172fs) Pelletier et al. 2007

Prokisch et al. 2007

c.2293G>T p.E765X ORF15 XLRP Sharon et al. 2003

(g.ORF15+540G>T) (p.ORF15+ E180X)

c.2305G>A p.E769X ORF15 XLRP Pelletier et al. 2007

(g.ORF15+552G>A) (p.ORF15+E184X) Kaplan J et al. 2007

c.2311delG p.E771fs ORF15 XLRP Sullivan et al. 2006

(g.ORF15+558delG) (p.ORF15+E186fs)

c.2319_2320delAG p.G773fs ORF15 XLRP Garica-Hoyos. 2006

(g.ORF15+566_567delAG) (p.ORF15+G188fs)

c.2323_2324delAG p.R775fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+570_571delAG) (p.ORF15+R190fs) Prokisch et al. 2007

c.2340delA p.R780fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+587delA) (p.ORF15+R195fs)

c.2340_2341delAG p.R780fs ORF15 XLRP Bader et al. 2003

(g.ORF15+587_588delAG) (p.ORF15+R195fs)

c.2357_2358delAA p.K786fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+604_605delAA) (p.ORF15+K201fs)

c.2384delA p.E795fs ORF15 XLRP Breuer et al. 2002; Pusch et al.

(g.ORF15+631delA) (p.ORF15+E210fs) 2002; Aguirre et al. 2002

c.2398delG p.E800fs ORF15 XLRP Bader et al. 2003

(g.ORF15+645delG) (p.ORF15+E215fs)

c.2400_2401delAA p.E800fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+647_648delAA) (p.ORF15+E215fs)

c.2403_2404delAG p.T801fs ORF15 XLRP, Breuer et al. 2002;

(g.ORF15+650_651delAG) (p.ORF15+T216fs) XLDRP Rozet et al. 2002

c.2403_2406delAGAG p.T801fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+650_653delAGAG) (p.ORF15+T216fs) Pelletier et al. 2007

c.2404_2405delGA p.E802fs ORF15 XLRP Nao-I et al. 2003

(g.ORF15+651_652delGA) (p.ORF15+E217fs) Garcia-Hoyos et al. 2006

c.2405_2406delAG p.E802fs ORF15 XLRP Vervoort et al. 2000;

(g.ORF15+652_653delAG) (p.ORF15E217fs) Breuer et al. 2002; Rozet

et. 2002; Andreasson et al.

2003; Bader et al. 2003;

Chakarova et al. 2006;

Jin et al. 2006; Pelletier et al. 2007

c.2412_2413delAG p.R804fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+659_660delAG) (p.ORF15+R219fs)

c.2423_2424delAA p.K808fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+670_671delAA) (p.ORF15+K223fs)

c.2425_2426delGA p.E809fs ORF15 XLRP Jin et al. 2005

(g.ORF15+672_673delGA) (p.ORF15+E224fs)

c.2426_2427delAG p.E809fs ORF15 XLRP Vervoort et al. 2000;

(g.ORF15+673_674delAG) (p.ORF15+E224fs) Breuer et. al. 2002;

Andreasson et al. 2003;

Jin et al. 2006

c.2437G>T p.E813X ORF15 XLRP Sharon et al. 2003

(g.ORF15+684G>T) (p.ORF15+ E228X)

c.2442_2445delAGAG p.V814fs ORF15 XLRP Vervoort et al. 2000;

(g.ORF15+689_692delAGAG) (p.ORF15+V229fs) Breuer et al. 2002;

Bader et al. 2003

c.2464_2468delGGGAA p.G822fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+711_715delGGGAA) (p.ORF15+G237fs)

c.2467A>T p.K823X ORF15 XLRP Pelletier et al. 2007

(g.ORF15+714A>T) (p.ORF15+K238X)

c.2472_2485del14 p.G824fs ORF15 XLRP Kaplan et al. 2007

(g.ORF15+719_732del14) (p.ORF15+G239fs)

c.2473_2474delGA p.E825fs ORF15 XLRP Garica-Hoyos et al. 2006

(g.ORF15+720_721delGA) (p.ORF15+E240fs)

c.2473_2486del14 p.E825fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+720_733del14) (p.ORF15+E240fs)

c.2476_2477delAG p.R826fs ORF15 XLRP Pusch et al. 2002;

(g.ORF15+723_724delAG) (p.ORF15+R241fs) Bader et al. 2003

c.2480_2520dup41 p.E841fs ORF15 XLRP Pusch et al. 2002

(g.ORF15+727_767dup41) (p.ORF15+E256fs)

c.2491G>T p.E831X ORF15 XLRP Sharon et al. 2003

(g.ORF15+738G>T) (p.ORF15+E246X)

c.2493_2494delGG p.E831fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+740_741delGG) (p.ORF15+E246fs)

c.2494G>T p.E832X ORF15 XLRP Pelletier et al. 2007

(g.ORF15+741G>T) (p.ORF15+E247X) Kaplan et al. 2007

c.2495_2516del22 p.E832fs ORF15 XLRP Bader et al. 2003

(g.ORF15+742_763del22) (p.ORF15+E247fs)

c.2499delT p.G833fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+746delT) (p.ORF15+G248fs)

c.2501delA p.E834fs ORF15 XLRP Bader et al. 2003

(g.ORF15+748delA) (p.ORF15+E249fs)

c.2505_2506delGG p.G835fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+752_753delGG) (p.ORF15+G250fs)

c.2506delG p.E836fs ORF15 XLRP Pelletier et al. 2007;

(g.ORF15+753delG) (p.ORF15+E251fs) Prokisch et al. 2007;

Shu et al. 2007

c.2506dupG p.E836fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+753dupG) (p.ORF15+E251fs)

c.2506_2507insG p.E836fs ORF15 XLRP Yokoyama et al. 2001

(g.ORF15+753_754insG) (p.ORF15+E251fs)

c.2516_2520delAAGGG p.E839fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+763_767delAAGGG) (p.ORF15+E254fs)

c.2517_2518delAG p.E839fs ORF15 XLRP Sharon et al. 2003;

(g.ORF15+764_765delAG) (p.ORF15+E254fs) Gire et al. 2003;

Sullivan et al. 2006

c.2522delA p.E841fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+769delA) (p.ORF15+E256fs)

c.2529delA p.E843fs ORF15 XLRP Shu et al. 2007

(g.ORF15+776delA) (p.ORF15+E258fs)

c.2536G>T p.E846X ORF15 XLRP Shu et al. 2007

(g.ORF15+783G>T) (p.ORF15+E261X)

c.2543delA p.E848fs ORF15 XLRP Pusch et al. 2002

(g.ORF15+790delA) (p.ORF15+E263fs)

c.2548delG p.E850fs ORF15 XLRP Prokisch et al. 2007

c.2548_2667del120insAGGGAGAA p.E850fs ORF15 XLRP Prokisch et al. 2007

c.2554_2555insG p.E852fs ORF15 XLRP Bader et al. 2003

(g.ORF15+801_802insG) (p.ORF15+E267fs)

c.2557G>T p.E853X ORF15 XLRP Vervoort et al. 2000

(g.ORF15+804G>T) (p.ORF15+E268X) Pelletier et al. 2007

c.2571_2572delAG p.K857fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+818_819delAG) (p.ORF15+K272fs)

c.2586_2587delGG p.G862fs ORF15 XLRP Yokoyama et al. 2001;

(g.ORF15+833_834delGG) (p.ORF15+G277fs) Naoi et al. 2003

c.2590G>T p.E864X ORF15 XLRP Pusch et al. 2002

(g.ORF15+837G>T) (p.ORF15+E279X)

c.26012602delGG p.G867fs ORF15 XLRP Bader et al. 2003

(g.ORF15+848_849delGG) (p.ORF15+G282fs)

c.2608_2611delGAAG p.E870fs ORF15 XLRP Garica-Hoyos et al. 2006

(g.ORF15+855_858delGAAG) (p.ORF15+285fs)

c.2613_2614delGG p.G871fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+860_861delGG) (p.ORF15+G286fs)

c.2614_2615insGG p.E872fs ORF15 XLRP Yokoyama et al. 2001;

(g.ORF15+861_862insGG) (p.ORF15+E287fs) Naoi et al. 2003

c.2625_2626insA p. G876fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+872_873insA) (p.ORF15+G291fs)

c.2628_2629delGG p.G876fs ORF15 XLRP Pusch et al. 2002

(g.ORF15+875_876delGG) (p.ORF15+G291fs)

c.2629G>T p.E877X ORF15 XLRP Shu et al. 2007

(g.ORF15+876G>T) (p.ORF15+E292X)

c.2635dupG p.E879fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+882dupG) (p.ORF15+E294fs)

c.2650G>T p.E884X ORF15 XLRP Vervoort et al. 2000;

(g.ORF15+897G>T) (p.ORF15+E299X) Sharon et al. 2003

c.2655_2656delGG p.G885fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+902_903delGG) (p.ORF15+G300fs)

c.2659_2662delGGAG p.G887fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+906_909delGGAG) (p.ORF15+G302fs)

c.2665G>T p.E889X ORF15 XLRP Demirci et al. 2006

(g.ORF15+912G>T) (p.ORF15+E304X)

c.2679_2680delGG p.G893fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+926_927delGG) (p.ORF15+G308fs)

c.2683G>T p.G895X ORF15 XLDRP Rozet et al. 2002

(g.ORF15+930G>T) (p.ORF15+G310X) Pelletier et al. 2007

c.2707G>T p.E903X ORF15 XLRP Sharon et al. 20003

(g.ORF15+954G>T) (p.ORF15+E318X)

c.2714_2715delAA p.E905fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+961_962delAA) (p.ORF15+E320fs)

c.2715_2716insCCTC p.E906fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+962_963insCCTC) (p.ORF15E321fs)

c.2716G>T p.E906X ORF15 XLRP Sharon et al. 2003

(g.ORF15+963G>T) (p.ORF15+E321X)

c.2730_2731delGG p.G910fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+977_978delGG) (p.ORF15+G325fs)

c.2760_2761delAG p.F920fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1007_1008delAG) (p.ORF15+F335fs)

c.2763_2764delGG p.G921fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+1010_1011delGG) (p.ORF15+G336fs)

c.2782G>T p.G928X ORF15 XLRP Pusch et al. 2002;

(g.ORF15+1029G>T) (p.ORF15+G343X) Bader et al. 2003

c.2790_2791delGG p.G930fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1037_1038delGG) (p.ORF15+G345fs)

c.2792delA p.E931fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1039delA) (p.ORF15+E346fs)

c.2800G>T p.E934X ORF15 XLRP Sharon et al. 2003

(g.ORf15+1047G>T) (p.ORF15+E349X)

c.2812G>T p.E938X ORF15 XLDRP Rozet et al. 2002

(g.ORF15+1059G>T) (p.ORF15+E353X) Pelletier et al. 2007

c.2836_2840del5 p.G946fs ORF15 XLDRP Rozet et al. 2002

(g.ORF15+1083_1087del5 (p.ORF15+G361fs)

c.2838_2839delGG p.E947fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1085_1086delGG) (p.ORF15+E362fs)

c.2840delA p.E947fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1087delA) (p.ORF15+E362fs)

c.2840_2844del5 p.E947fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1087_1091del5) (p.ORF15+E362fs)

c.2845delG p.E949fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1092delG) (p.ORF15E364fs)

c.2848G>T p.E950X ORF15 XLCRD Ebenezer et al. 2005

(g.ORF15+1095G>T) (p.ORF15+E365X)

c.2851_2854delGAGG p.E951fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+1098_1101delGAGG) (p.ORF15+E366fs)

c.2862dupA p.W955fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1109dupA) (p.ORF15+W370fs)

c.2866delG p.E956fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+1113delG) (p.ORF15+E371fs)

c.2867delA p.E956fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1114delA) (p.ORF15+E371fs)

c.2872G>T p.E958X ORF15 XLRP Shu et al. 2007

(g.ORF15+1119G>T) (p.ORF15+E373X)

c.2892_2893delGG p.G964fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1139_1140delGG) (p.ORF15+G379fs)

c.2893delG p.E965fs ORF15 XLRP Garica-Hoyos et al. 2006

(g.ORF15+1140delG) (p.ORF15+E380fs)

c.2894delA p.E965fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+1141delA) (p.ORF15+E380fs)

c.2899delG p.E967fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+1146delG) (p.ORF15+E382fs)

c.2908_2931dup24 p.E978fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1155_1178dup24) (p.ORF15+E393fs)

c.2916_2917delGG p.G972fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1163_1164delGG) (p.ORF15+G387fs)

c.2917G>T p.E973X ORF15 Atrophic MD Ayyagari et al. 2002

(g.ORF15+1164G>T) (p.ORF15+E388X)

c.2919delA p.E973fs ORF15 XLRP Chang et al. 2007

(g.ORF15+1166delA) (p.ORF15+E388fs)

c.2924_2943dup20 p.E982fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1171_1190dup20) (p.ORF15+E397fs)

c.2929G>T p.G977X ORF15 XLCRD Ebenezer et al. 2003

(g.ORf15+1176G>T) (p.ORF15+G392X)

c.2935_2936delGG p.E979fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+1182_1183delGG) (p.ORF15+E394fs)

c.2944delG p.E982fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+1191delG) (p.ORF15+E397fs)

c.2952_2978del27insT p.E984fs ORF15 XLRP Itabashi et al. 2004

(g.ORF15+1199_1225del27insT) (p.ORF15+E399fs)

c.2964_2965delGG p.G988fs ORF15 XLRP Garica-Hoyos et al. 2006

(g.ORF15+1211_1212delGG) (p.ORF15+G403fs)

c.2984_2985delGG p.G995fs ORF15 XLRP Jin et al. 2005

(g.ORf15+1231_1232delGG) (p.ORF15+G410fs)

c.2985_2986delGG p.G995fs ORF15 XLRP Jin et al. 2007

(g.ORF15+1232_1233delGG) (p.G410fs)

c.2992_2996del5 p.E998fs ORF15 XLRP Vervoort et al. 2000

(g.ORf15+1239_1243del5 (p.ORF15+E413fs)

c.2995_2996delGG p.G999fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+1242_1243delGG) (p.ORF15+G414fs)

c.2997_2998delGG p.G999fs ORF15 XLRP Pusch et al. 2002

(g.ORF15+1244_1245delGG) (p.ORF15+G414fs)

c.3007_3008delGG p.G1003fs ORF15 XLRP Bader et al. 2003

(g.ORF15+1254_1255delGG) (p.ORF15+G418fs)

c.3007_3010delGGAG p.G1003fs ORF15 XLRP Sharon et al. 2003

(g.ORf15+1254_1257delGGAG) (p.ORF15+G418fs) Pelletier et al. 2007

c.3011_3012delAG p.E1004fs ORF15 XLRP Sharon et al. 2003

(g.ORF15+1258_1259delAG) (p.ORF15+E419fs)

c.3027_3028delGG p.G1009fs ORF15 XLRP Prokisch et al. 2007

Roux et al. Unpublished

c.3050_3051delAG p.E1017fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+1297_1298delAG) (p.ORF15+E432fs)

c.3058delG p.E1020fs ORF15 XLRP Shu et al. 2007

(g.ORF15+1305delG) (p.ORF15+E435fs)

c.3090_3091delAG p.G1030fs ORF15 XLRP Breuer et al. 2002

(g.ORF15+1337_1338delAG) (p.ORF15+G445fs)

c.3092delA p.E1031fs ORF15 XLRP Bader et al. 2003;

Sharon et al. 2003

(g.ORF15+1339delA) (p.ORF15+E446fs)

c.3092_3093delAG p.E1031fs ORF15 XLCRD Demirci et al. 2002

(g.ORF15+1339_1340delAG) (p.ORF15+E446fs)

c.3096_3097delGG p.G1032fs ORF15 XLCRD Demirci et al. 2002;

(g.ORF15+1343_1344delGG) (p.ORF15+G447fs) Yang et al. 2002

c.3097delG p.E1033fs ORF15 XLRP Vervoort et al. 2000

(g.ORF15+1344delG) (p.ORF15+E448fs)

c.3175_3176delAG p.R1059fs ORF15 XLRP Garica-Hoyos et al. 2006

(g.ORF15+1422_1423delAG) (p.ORF15+R474fs)

c.3211G>T p.E1071X ORF15 XLRP Sharon et al. 2003

(g.ORF15+1458G>T) (p.ORF15+E486X)

c.3207_3208delGG p.E1010fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1454_1455delGG) (p.ORF15+E425fs)

c.3232G>T p.E1078X ORF15 XLRP Pusch et al. 2002

(g.ORF15+1479G>T) (p.ORF15+E493X)

c.3316_3319delAAGT p.K1106fs ORF15 XLRP Rebello et al. 2003

(g.ORF15+1563_1566delAAGT) (p.ORF15+K521fs)

c.3317_3318insA p.K1106fs ORF15 XLRP Demirci et al. 2002

(g.ORF15+1564_1565insA) (p.ORF15+K521fs)

c.3394_3395delAA p.N1132fs ORF15 XLRP Pelletier et al. 2007

(g.ORF15+1641_1642delAA) (p.ORF15+N547fs)

RPGR exons 1-ORF15 sequence is based on Acc. No. BK005711; the traditional nomenclature is shown in brackets based Acc. Nos. U57629 and AF286472.

Table 2 Mutations in RPGR introns

Localisation Syndrome References

Intron 1

c.28+1G>A (IVS1+1G>A) XLRP Zito et al. 1999; Sharon et al. 2000; Zito et al. 2000;

Prokisch et al. 2007

c.28+5G>A (IVS1+5G>A) XLRP Zito et al. 1999

Intron 2

c.1552A>G (IVS22A>G) XLRP Miano et al. 1999

c.1551G>A (IVS21G>A) XLRP Koenekoop et al. 2003

Intron 3

c.2486T>A (IVS36T>A) XLRP Sharon et al. 2000

Intron 4

c.310+1G>A (IVS4+1G>A) XLRP Sharon et al. 2000

c.310+1G>C (IVS4+1G>C) XLRP Sharon et al. 2000; Breuer et al. 2002

c.310+3A>G (IVS4+3A>G) XLRP Buraczynska et al. 1997; Pelletier et al. 2007

Intron 5

c.469+1G>T (IVS5+1G>T) XLRP, PCD Meindl et al. 1996; Dry et al. 1999

Intron 6

c.619+5G>A (IVS6+5G>A) XLRP Zito et al. 2000a,b

c.619+9del (IVS6+9del) XLRP, PCD Moore et al. 2006

Intron 7

c.778+1G>C (IVS7+1G>C) XLRP Shu et al. 2007

c.778+5G>A (IVS7+5G>A) XLRP Buraczynska et al. 1997; Bauer et al. 1998

c.7781G>A (IVS71G>A) XLRP Sharon et al. 2003

Intron 8

c.934+1G>A (IVS8+1G>A) X LRP Miano et al. 1999

c.934+1G>C (IVS8+1G>C) XLRP Guevara-Fujita et al. 2001

Intron 9

c.1059+2T>C XLRP Prokisch et al. 2007

c.1059+363G>A XLRP Neidhardt et al. 2007

Intron 10

c.1245+2T>C (IVS10+2T>C) XLRP Breuer et al. 2002

c.1245+3A>G (IVS10+3A>G) XLRP Andreasson et al. 1997; Fujita et al. 1997

c.12462A>C (IVS102A>C) XLRP Pelletier et al. 2007

Intron 11

c.1414+2T>A (IVS11+2T>A) XLRP Shu et al. 2007

Intron 13

c.1572+1G>A (IVS13+1G>A) XLRP Shu et al. 2007

c.15738A>G (IVS138A>G) XLRP Andreasson et al. 1997, 2003; Fujita et al. 1997

c.15733C>G XLRP Prokisch et al. 2007

c.15732A>G (IVS132A>G) XLRP Miano et al. 1999;Garcia-Hoyos et al. 2006

c.15731G>A (IVS131G>A) XLRP Sharon et al. 2000

RPGR sequence is based on BK005711, “+1" is “A” of “ATG”; the data included in brackets show the previous nomenclature based on accession number U57629.

Table 3. Large RPGR deletions reported in XLRP and other subjects. McLeod s., McLeod syndrome; CGD, chronic granulomatous disease; XLCRD, X-linked cone rod dystrophy.

Name Localisation breakpointsPhenotypeReference

g.EX4_EX15 XLRP Prokisch et al. 2007

g.EX8+57_IVS8 EX8+57 and IVS8+1317 XLRP Vervoort et al. 2000

+1317del 1374

g.EX8_EX10del IVS7 and IVS10 XLRPBuraczynska et al.

1997; Andreasson et al. 1997

g.EX11_EX19del XLRP Bader et al. 2003

g.EX14_EX15del IVS13 and IVS15 XLRP Meindl et al. 1996;

(loss of 7kb EcoRI fragment)Bader et al. 2003

g.EXORF15_EX15Adel IVS15+1.5kb and IVS15+7.9kb XLRP/XLCRDRoepman et al. 1996;

(IVS15a+70)Kirschner et al. 1999

Prokisch et al. 2007

MO deletion RPGR IVS10 and XLRP Meindl et al. 1996

SRPX IVS1

SB deletion RPGR IVS9 and XLRP, CGDMeindl et al. 1996;

Telomeric of XK locusMcLeod s.Brown et al. 1996

g.Ex1_Ex11del c.1-80_1414+42delinsC XLRP Jin et al. 2005

Table 4. Reported polymorphisms in the human RPGR gene.

Nucleotide change Amino acid change Exon/Intron Reference

c.141T>G (200T>G) p.S47S Exon 2 Miano et al. 1999

c.153C>T (212C>T) p.T51T Exon 3 Breuer et al. 2002

c.223A>G (282A>G) p.I75V Exon 3 Buracznska et al. 1997

c.227G>T (286G>T) p. S76I Exon 3 Zito et al. 1999

c.732G>A (791G>A) p.K244K Exon 7 Miano et al. 1999; Sharon et al. 2000

c.785C>G (844C>G) p.A262G Exon 8 Buraczynska et al. 1997

c.1033A>G (1092A>G) p.N345D Exon 9 Sharon et al. 2000; Demirci et al. 2002

c.1164G>A (1223G>A) p.A388A Exon 10 Sharon et al. 2000;

Buraczynska et al. 1997

c.1164G>T (1223G>T) p.A388A Exon 10 Breuer et al. 2002

c.1274G>A (1333G>A) p.R425K Exon 11 Roepman et al. 1996a; Buraczynska et

al. 1997; Zito et al. 1999; Miano et al.

1999; Sharon et al. 2000; Zito et al.

2000b; Breuer et al. 2002

c.1291A>G (1350A>G) p.I431V Exon 11 Roepman et al. 1996a; Buraczynska et

al. 1997; Miano et al. 1999; Sharon et

al. 2000; Breuer et al. 2002

c.1295A>G (1354A>G) p.E432G Exon 11 Breuer et al. 2002

c.1367A>G (1426A>G) p.Q456R Exon 11 Breuer et al. 2002

c.1576_1578delCAA p.Q526del Exon 14 Zito et al. 2000b; Breuer et al. 2002

(1635-1637delCAA)

c.1598C>T (1657C>T) p.T533M Exon 14 Miano et al. 1999; Zito et al. 2000b;

Breuer et al. 2002

c.1687G>A (1746G>A) p.V563M Exon 14 Breuer et al. 2002

c.1697G>A (1756G>A) p.G566E Exon 14 Buraczynska et al. 1997; Zito et al.

1999; Miano et al. 1999

Sharon et al. 2000; Zito et al. 2000b

c.2223G>A p.E741E ORF15 Bader et al. 2003

(g.ORF15+470G>A) (p.ORF15+E156E)

c.2341G>A p.A781T ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+588G>A) ( p.ORF15+A196T)

c.2401A>G p.T801A ORF15 Vervoort et al. 2000

(g.ORF15+648A>G) (p.ORF15+T216A)

c.2447_2461del15 p.G816_E820del ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+694_708del15) (p.ORF15+N231_P235del) Yang et al. 2002

c.2501_2572del21 p.E834_ G840del ORF15 Rozet et al. 2002

(g.ORF15+748_768del21) (p.ORF15+E249_G255del)

c.2541_2561del21 p.E848_G854del ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+788_808del21) (p.ORF15+E263-G269del)

c.2606_2620del15 p.E869_E873del ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+853_867del15) (p.ORF15+E284-E288del)

c.2615_2616ins21 p.E872_E873ins7 ORF15 Breuer et al. 2002

(g.ORF15+862_863ins21) (p.ORF15+E287ins7aa)

c.2665_2667delGAG p.E889del ORF15 Rozet et al. 2002

(g.ORF15+912_914delGAG) (p.ORF15+E304del)

c.2667_2669delGGA p.E890del ORF15 Vervoort et al. 2000; Breuer et al.

(g.ORF15+914_916delGGA) (p.ORF15+E305del) 2002; Bader et al. 2003

c.2670_2744dup75 p.G891_E892ins25 ORF15 Bader et al. 2003

(g.ORF15+917_991dup75) ( p.ORF15+G306ins25aa)

c.2717_2719delAGG p.E905del ORF15 Breuer et al. 2002

(g.ORF15+964_966delAGG) (p.ORF15+E321del) ORF15

c.2804_2824dup21 p.E935_E936ins7 ORF15 Breuer et al. 2002

(g.ORF15+1051_1071dup21) ( p.ORF15+E350ins7aa)

c.2820_2840dup21 p.E940_G941ins7 ORF15 Vervoort et al. 2000

(g.ORF15+1067_1087dup21) (p.ORF15+E355ins7aa)

c.2884G>A p.G962R ORF15 Bader et al. 2003

(g.ORF15+1131G>A) (p.ORF15+G377R)

c.2903_2923dup21 p.E968_E969ins7 ORF15 Rozet et al. 2002

(g.ORF15+1150_1170dup21) (p.ORF15+E383ins7aa)

c.2918_2938dup21 p.E973_G974ins7 ORF15 Vervoort et al. 2000

(g.ORF15+1165_1185dup21) (p.ORF15+E388ins7aa)

c.2973_2987del15 p.E992_E996del ORF15 Breuer et al. 2002

(g..ORF15+1220_1234del15) (p.ORF15+407-411del)

c.3051_3062del12 p.E1018_V1021del ORF15 Breuer et al. 2002

(g.ORF15+1298_1309del12) (p.ORF15+433-436del)

c.3060_3071del12 p.V1021_E1024del ORF15 Vervoort et al. 2000; Demirci et al.

(g.ORF15+1307_1318del12) (p.ORF15+436-439del) 2002; Bader et al. 2003

c.3061_3072del12 p.V1021_E1024 ORF15 Breuer et al. 2002; Bader et al. 2003

(g.ORF15+1308_1319del12) (p.ORF15+436-439del)

c.3074_3085del12 p.V1025_E1028del ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+1321_1332del12) (p.ORF15+440-443del)

c.3219C>T p.G1073G ORF15 Vervoort et al. 2000

(g.ORF15+1466C>T) (p.ORF15+G488G)

c.3231T>A p.N1077K ORF15 Bader et al. 2003

(g.ORF15+1478T>A) (p.ORF15+N492K)

c.3396T>C p.N1132N ORF15 Vervoort et al. 2000

(g.ORF15+1643T>C) (p.ORF15+N547N)

c.3428A>G p.N1143S ORF15 Jin et al. 2005

(g.ORF15+1675A>G) (p.ORF15+N558S)

c.3430A>G p.I1144V ORF15 Vervoort et al. 2000; Bader et al. 2003

(g.ORF15+1677A>G) (p.ORF15+I559V)

c.2302C>A (2361C>A) p.P768T Exon 19 Fishman et al. 1998b

c.2915A>G (IVS115A>G) Intron 1 Buraczynska et al. 1997;

Sharon et al. 2000; Breuer et al. 2002

c.619+16A>G (IVS6+16A>G) Intron 6 Buraczynska et al. 1997; Miano et

al. 1999; Sharon et al. 2000; Breuer

et al. 2002

c.62041T>C (IVS641T>C) Intron 6 Sharon et al. 2000

c.124613delC (IVS1013del C) Intron 10 Sharon et al. 2000

c.1507130T>C (IVS12130T>C) Intron 12 Miano et al. 1999

c.1507101T>A (IVS12-101T>A) Intron 12 Miano et al. 1999; Sharon et al.

2000; Breuer et al. 2002

c.1507101_104del4 (IVS12101_104del4) Intron 12 Sharon et al. 2000

c.1507101T>AA (IVS12101T>AA) Intron 12 Sharon et al. 2000

c.1507101ins1 (IVS12100ins1) Intron 12 Sharon et al. 2000; Breuer et al. 2002

c.150797T>C (IVS1297T>C) Intron 12 Buraczynska et al. 1997; Sharon

et al. 2000; Breuer et al. 2002

c.150792_93del2 (IVS12-92_93del2) Intron 12 Sharon et al. 2000

c.150793ins2 (IVS1293ins2) Intron 12 Sharon et al. 2000; Breuer et al. 2002

c.150768T>C (IVS1268T>C) Intron 12 Buracznska et al. 1997

c.1572+11A>G (IVS13+11A>G) Intron 13 Buracznska et al. 1997; Miano et al.

1999; Sharon et al. 2000; Zito et al.

2000b; Breuer et al. 2002

c.2092137T>A (IVS16137T>A) Intron 16 Breuer et al. 2002

c.2149+46C>T (IVS17+46C>T) Intron 17 Miano et al. 1999; Sharon et al.

2000; Breuer et al. 2002

c.2241+11T>C (IVS18+11T>C) Intron 18 Buraczynska et al. 1997; Miano et

al. 1999; Sharon et al. 2000; Zito et

al. 2000b; Breuer et al. 2002

RPGR exons 1-ORF15 sequence is based on BK005711; RPGR exon 19 and introns 16-18 is based U57629; “+1" is “A” of “ATG”; the data included in brackets show the traditional nomenclature based on U57629 and AF286472 sequences.