Scientific Mutation Database
 Mutations of the Retinoschisin Gene(RS1)

Recent update from: 11.08.06

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

c.00 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 RS1 mutations.

RS del136 kb incl. 1-3
c.0 5' UTR


Patients:
goto HGMD
(11)
RS Del Exon 1 - 3
c.0 1


Patients:
goto HGMD
(30)
(1)
RS Exon 1 del 20 kb deletion c.0 1


Patients:
goto HGMD
(1)
RS del exon 1 Del exon 1 + flanking sequences of undefined size c.0 5' UTR


Patients: 4
GN
Swedish
Japanese
50
(8)
(17)
(2)
(23)
(4)
(11)
To online reference
RS -5353del1560bp & -2578del2887bp
c.000 5' UTR


Patients:
goto HGMD
(11)
RS Met 1 Val ATG>GTG c.001 1 -MboII

Patients: KW 		goto HGMD
(17)
(23)
To online reference
RS Met 1 Thr ATG>ACG c.002 1 -MnlI, +MaeII

Patients:
goto HGMD
(1)
(23)
RS IVS1+2t>c GAA G gtatg>GAA G gcatg c.018 IVS1


Patients:
goto HGMD
(16)
RS Exon 2 or 3 del
c.019 2


Patients:
goto HGMD
(16)
RS 33delACTT TTA CTT CTC>TT_ ___ CTC c.033 1


Patients:
goto HGMD
(1)
(8)
RS Leu 12 His CTT>CAT c.035 1

Compound:
  • IVS+5g-c

Patients:
goto HGMD
(1)
RS Leu 13 Pro CTC>CCC c.038 1


Patients: USA 		goto HGMD 312700-0007 (8)
RS IVS1+1g>a GAA G gtatg>GAA G atatg c.052 IVS1 +MboII
Germany, Japan, USA
Patients: SK 		goto HGMD
(1)
(17)
(23)
To online reference
RS IVS1+2ins t GAA G gtatg >GAA G gttatg c.052 IVS1


Patients:
goto HGMD
(1)
(8)
RS IVS1+5g>c gtatg tgcta>gtatc tgcta c.052 IVS1 +MboII
Compound:
  • L12H

Patients:
goto HGMD
(1)
(8)
RS IVS1+1g>t GAA G gtatg>GAA G ttatg c.052 IVS1


Patients:
goto HGMD
(1)
(8)
RS 53del25bp aaatc CC ACA TTG GGA TTA TCG TCT ACC GAG gtatg>aaatc __ ___ ___ ___ ___ ___ ___ ___ ___ gtatg c.053 2


Patients:
goto HGMD
(1)
(8)
RS Exon 2 del
c.053 2


Patients:
goto HGMD
(20)
RS Ser 23 ter TCG>TAG c.068 2


Patients:
goto HGMD
(1)
RS Glu 26 ter GAG>TAG c.076 2 +MaeI

Patients:
goto HGMD
(1)
RS IVS2-2a>g tgcag GAT>tgcgg GAT c.078 IVS2 -PstI

Patients:
goto HGMD
(1)
(22)
RS IVS2+1g>a GAG gtatg>GAG atatg c.078 IVS2


Patients:
goto HGMD
(21)
(13)
RS 79del105del exon 3 deleted c.079 3


Patients: 1 		goto HGMD
(1)
(8)
RS Cys 40 ter TGC>TGA c.120 3


Patients: 122
221
244
Swedish 		goto HGMD
(1)
(22)
(8)
(4)
RS 163delA delA c.163 3


Patients:
goto HGMD
(5)
RS 164insGCCA GCC ACC>GCC AGC CAC C c.164 3


Patients:
goto HGMD 312700-0009 (7)
RS 173del33bp GAC TGT ATA CCA G gtgag tatcc cctgt>G__ ___ ___ ___ _ _____ _____ _ctgt c.173 3


Patients:
goto HGMD
(24)
(23)
RS Cys 59 Ser TGT>AGT c.175 3


Patients:
goto HGMD
(1)
(5)
RS 181del14bp ATA CCA G gtgag tatcc>ATA ___ _ _____ _atcc c.181 3


Patients:
goto HGMD
(1)
RS IVS3+1g>c CCA G gtgag>CCA G ctgag c.184 IVS3 +AluI

Patients:
goto HGMD
(1)
(8)
(16)
RS IVS3-1g>c cccag AA>cccac AA c.185 IVS3 -BseI

Patients:
goto HGMD
(1)
RS 185del141bp del exon 3 c.185 4


Patients:
goto HGMD
(1)
RS IVS3-34 del 473bp del IVS3-34bp to IVS4+297bp c.185 4


Patients:
goto HGMD
(25)
To online reference
RS 195delT TAT CAC>TAT TAC c.185 2


Patients: Japanese 		goto HGMD
(14)
RS Tyr 65 Cys TAT>TGT c.194 4


Patients:
goto HGMD
(1)
RS 194delA CCA TAT >CCA T_T c.194 4


Patients: 1
USA
(8)
RS Gly 70 Ala GGT>GCT c.208 4


Patients: USA 		goto HGMD
(8)
RS Gly 70 Arg GGT>CGT c.208 4


Patients:
goto HGMD
(16)
RS Gly 70 Ser GGT>AGT c.209 4 +DdeI

Patients: USA 		goto HGMD
(1)
(8)
RS Glu 72 Lys GAG>AAG c.214 4 -TaqI

Patients: 93
180
64
USA
Sat
De
Na
Ta
OK 		goto HGMD 312700-0003 (1)
(8)
(17)
(29)
(26)
(23)
(4)
(9)
(10)
RS Glu 72 Gln GAG>CAG c.214 4


Patients:
goto HGMD
(30)
RS Glu 72 Asp GAG>GAC c.216 4 -PleI

Patients:
goto HGMD 312700-0004 (1)
RS Ser 73 Pro TCA>CCA c.217 4 +MvaI

Patients: JU#0073 		goto HGMD
(6)
RS 219delA TCA GGG>TC_ GGG c.219 4


Patients: USA 		goto HGMD
(8)
RS Gly 74 Val GGG>GTG c.221 4


Patients: 240 		goto HGMD 312700-0005 (1)
(8)
(4)
(10))
RS 221del17bp ins20bp TCA GGG GAG GTC ACA CCG GAC CAG>TCA GTC CCC TGA CCG GGT TAG AGT CAG c.221 4


Patients:
goto HGMD
(20)
RS Glu 75 ter GAG>TAG c.223 4 -MnlI

Patients: 48 		goto HGMD
(1)
(8)
(4)
RS Ile 81 Asp ATC>AAC c.242 4


Patients: 201 		goto HGMD
(26)
RS 253delAAC TCT AAC CCG>TCT ___ CCG c.253 4


Patients:
goto HGMD
(8)
RS Gln 88 ter CAG>TAG c.262 4


Patients: TK 		goto HGMD
(17)
(23)
To online reference
RS Tyr 89 Cys TAT>TGT c.266 4 +TspRI

Patients: JU#0190
UC 		goto HGMD
(1)
(17)
(23)
(6)
To online reference
RS Tyr 89 ter TAT>TAA c.267 4


Patients:
goto HGMD
(1)
RS Trp 92 Cys TGG>TGC c.276 4

Japanese patients
Patients: Se 		goto HGMD
(14)
(9)
RS Trp 96 Arg TGG>CGG c.286 4 +AciI

Patients:
goto HGMD 312700-0001 (1)
(22)
(8)
(16)
RS Trp 96 ter TGG>TGA c.288 3


Patients:
goto HGMD
(21)
RS Ala 98 Glu C>A c.293 4


Patients:
goto HGMD
(5)
RS Ala 101 Pro GCC>CCC c.301 4


Patients:
goto HGMD
(19)
RS 301delG AAG GCC>AAG _CC c.301 4 -HaeIII

Patients:
goto HGMD
(1)
RS Arg 102 Trp CGG>TGG c.304 4 +EcoRII

Patients:
goto HGMD 312700-0002 (1)
(22)
(8)
RS Arg 102 Gln CGG>CAG c.305 4 +AluI

Patients: 173
Sak 		goto HGMD
(1)
(8)
(26)
(9)
RS Leu 103 Arg T>G c.308 4 +HhaI, +CfoI

Patients:
goto HGMD
(1)
RS Asn 104 Lys AAC>AAG c.312 4 +HinfI

Patients:
goto HGMD
(12)
RS 317insA CAA GGC>CAA AGG C c.317 4


Patients:
goto HGMD
(1)
(22)
RS Phe 108 Cys TTT>TGT c.323 4


Patients:
goto HGMD
(5)
RS Gly 109 Trp GGG>TGG c.325 4


Patients:
goto HGMD
(5)
RS Gly 109 Arg GGG>CGG c.325 4

splice site mutation
Patients:
goto HGMD 312700-0006 (1)
(22)
(8)
(10)
RS Gly 109 Glu GGG>GAG c.326 4

Japanese patients
Possibly abberant splicing
Patients: NK 		goto HGMD
(14)
(17)
(23)
RS IVS4+1g>a GG gtaag>GG ataag c.326 IVS4


Patients:
goto HGMD
(1)
RS Cys 110 Tyr TGT>TAT c.329 5 -UbaEI

Patients:
goto HGMD
(1)
(8)
Polymorphism Cys 110 Cys TGT/TGC c.330 5


Patients:

(1)
RS Cys 110 ter TGT>TGA c.330 5

Japanese patients
Patients:
goto HGMD
(14)
RS Trp 112 Cys TGG>TGC c.336 5 -EcoRII, + MnlI

Patients: 70
140 		goto HGMD
(1)
(26)
RS Trp 112 Cys TGG>TGT c.336 5 -EcoRII, + BsmAI

Patients:
goto HGMD
(1)
RS Leu 113 Phe CTC>TTC c.337 5 +DrdII

Patients:
goto HGMD
(1)
(8)
(16)
RS 350insT CAG>CTG c.350 5 +NcoI

Patients:
goto HGMD
(1)
RS Trp 122 Cys TGG>TGC c.366 4


Patients: 101 		goto HGMD
(26)
RS 375delAGAT CAG ATA>C__ __A c.375 5 -BglII

Patients:
goto HGMD
(8)
(1)
RS Leu 127 Pro T>C c.380 5 +AlwI, -BglII

Patients:
goto HGMD
(1)
(8)
RS 392delAA ATC AAA GTG>ATC A__ GTG c.392 5 +TspRI

Patients:
goto HGMD
(1)
RS Ile 133 Phe ATT>TTT c.397 5


Patients:
goto HGMD
(15)
RS Gly 135 Val GGG>GTG c.404 5 -XhoII, -BsrI

Patients:
goto HGMD
(1)
RS Ile 136 Thr ATC>ACC c.407 5 -BamHI

Patients:
goto HGMD
(1)
(8)
RS Thr 138 Ala ACC>GCC c.412 5 -HphI

Patients:
goto HGMD
(1)
RS 416delA ACC CAG>ACC C_G c.416 5 +SmaI

Patients:
goto HGMD
(1)
RS Gly 140 Arg GGG>AGG c.418 5 -BsaJI

Patients:
goto HGMD
(1)
(8)
RS Gly 140 Glu GGG>GAG c.419 5 +Eco47III

Patients:
goto HGMD
(1)
RS Arg 141 Cys CGC>TGC c.421 5 -HaeII

Patients:
goto HGMD
(1)
(8)
(5)
RS Arg 141 Gly CGC>GGC c.421 5 -HaeI

Patients:
goto HGMD
(1)
RS Arg 141 His CGC>CAC c.422 5 -HaeII

Patients:
goto HGMD
(1)
(8)
Polymorphism Cys 142 Cys TGT/TGC c.426 5


Patients:

(1)
RS 426delTG CGC TGT GAC>CGC TG_ _AC c.426 5


Patients:
goto HGMD
(23)
RS Cys 142 Trp TGT>TGG c.426 5


Patients:
goto HGMD
(8)
RS Asp 143 Val GAC>GTC c.428 5 -MaeIII

Patients:
goto HGMD
(1)
RS Glu 146 Lys GAG>AAG c.436 5


Patients:
goto HGMD
(1)
(5)
RS Glu 146 Asp GAG>GAC c.438 5


Patients: Ki 		goto HGMD
(1)
(9)
RS Gln 154 ter CAG>TAG c.460 5 -FokI

Patients: Mi 		goto HGMD
(1)
(9)
RS Tyr 155 Cys TAC>TGC c.464 5 -AfaI, +BspWI

Patients:
goto HGMD
(1)
Polymorphism Asp 158 Asn GAT/AAT c.472 5


Patients:

(1)
RS Trp 163 ter TGG>TGA c.489 5 -BsrI

Patients: YN 		goto HGMD
(17)
(23)
(4)
To online reference
RS Trp 163 Cys TGG>TGT c.489 5


Patients:
goto HGMD
(8)
RS Lys 167 ter AAG>TAG c.499 5


Patients: Taiwanese 		goto HGMD
(28)
RS Lys 167 Asn AAG>AAC c.501 5


Patients:
goto HGMD
(21)
RS IVS5+5g>a aagtt>aaatt c.522 IVS5


Patients: 1 		goto HGMD
(8)
(21)
RS IVS5+1g>t CGG gtaag>CGG ttaag c.522 IVS5 -NciI, +MseI

Patients:
goto HGMD
(1)
RS IVS5+1g>a CGG gtaag>CGG ataag c.522 IVS5


Patients:
goto HGMD
(21)
RS IVS5-2a>g tctag GTC>tctgg GTC c.523 IVS5 -BfaI

Patients:
goto HGMD
(1)
(8)
RS Gly 178 Asp GGC>GAC c.533 6


Patients: 80 		goto HGMD
(1)
(8)
(26)
RS Asn 179 Asp AAC>GAC c.535 6 +HinfI

Patients:
goto HGMD
(29)
RS Arg 182 Cys CGC>TGC c.544 6 +BsgI

Patients: YS
TM 		goto HGMD
(1)
(17)
(8)
(23)
To online reference
RS 549insCC ACC TCC>ACC CCT CC c.549 6


Patients: 1 		goto HGMD
(8)
RS Thr 185 Lys CCC>TCC c.554 6 +AvaII, -HaeIII

Patients:
goto HGMD
(1)
(22)
(8)
(4)
RS Pro 192 Ser CCC>TCC c.574 6 +AvaII, -HaeIII

Patients:
goto HGMD
(1)
(22)
(8)
(4)
RS Pro 192 Thr CCC>ACC c.574 6


Patients:
goto HGMD
(27)
RS Pro 192 Arg CCC>CGC c.575 6 -HaeIII, +CfoI

Patients:
goto HGMD
(1)
RS 577insT CCC CCC>CCC TCC C c.577 6 -NlaIV, +MnlI

Patients:
goto HGMD
(1)
RS Pro 193 Ser CCC>TCC c.577 6


Patients:
goto HGMD
(3)
(2)
(19)
To online reference
RS Pro 193 Leu CCC>CTC c.578 6 +AvaII

Patients: Mo
Yo 		goto HGMD
(1)
(22)
(8)
(5)
(9)
RS 579insC CGG CCC CCC ATC>CGG CCC CCC CAT C c.579 6 -BbvI

Patients:
goto HGMD
(1)
(5)
(16)
RS Arg 197 Cys CGC>TGC c.589 6 -AciI

Patients:
goto HGMD
(1)
(8)
RS Arg 197 Pro CGC>CCC c.590 6

Japanese patients
Patients:
goto HGMD
(14)
RS Arg 197 His CGC>CAC c.590 6 -MwoI

Patients:
goto HGMD
(1)
(8)
RS Ile 199 Thr ATC>ACC c.596 6 +HphI

Patients:
goto HGMD
(1)
(8)
(16)
RS Arg 200 Cys CGC>CGT c.598 6

Japanese patients
Patients:
goto HGMD
(14)
RS Arg 200 His CGC>CAC c.599 6 -AciI

Patients:
goto HGMD
(1)
(8)
Polymorphism Ile 202 Ile CTC/CTT c.606 6 -FokI

Patients:

(1)
RS Pro 203 Leu CCG>CTG c.608 6 -MspAII, -MaeII

Patients: SI 		goto HGMD 312700-0010 (1)
(17)
(23)
(10)
(16)
To online reference
RS Trp 206 ter TGG>TAG c.618 6 -FokI, +AflIII

Patients:
goto HGMD
(1)
RS His 207 Gln CAC>GAC c.621 6 -MaeII

Patients:
goto HGMD
(1)
RS Arg 209 Cys CGC>TGC c.625 6 -AciI

Patients: JU#0230 		goto HGMD
(1)
(6)
RS Pro 209 Gly CGC>GGC c.625 6 -AciI

Patients:
goto HGMD
(10)
RS Arg 209 His CGC>CAC c.626 6


Patients:
goto HGMD
(1)
(22)
RS Ala 211 Thr GCC>ACC c.631 6


Patients:
goto HGMD
(13)
RS Arg 213 Gln CGG>CAG c.636 6


Patients: Ka 		goto HGMD
(9)
RS Arg 213 Trp CGG>TGG c.637 6 -MspI

Patients:
goto HGMD
(1)
(8)
(16)
RS 639delG CGG ATG>CG_ ATG c.639 6

3 affected females
Patients: Colombian 		goto HGMD
(18)
(8)
RS Glu 215 Lys GAG>AAG c.643 6


Patients:
goto HGMD
(5)
RS Glu 215 Gln GAG>CAG c.643 6 -FokI, +PvuII

Patients:
goto HGMD
(1)
RS Leu 216 Pro CTG>CCG c.647 6 -AluI

Patients:
goto HGMD
(1)
(8)
RS Cys 219 Arg TGC>CGC c.655 1 +HhaI

Patients:
goto HGMD
(1)
RS Cys 219 Gly TGC>GGC c.655 6 +BsaHI

Patients:
goto HGMD
(1)
RS 655delT GAC TGC>GAC_GC c.655 6 -BhvI, +MnlI

Patients:
goto HGMD
(1)
RS 655del25bp GAG TGC GTC AGC AAG TGT GCC TGA tgcct>GAG ___ ___ ___ ___ ___ ___ ___ ____t c.655 6


Patients:
goto HGMD
(1)
Polymorphism Lys 222 Asn AAG/AAC c.666 6


Patients:

(1)
RS Cys 223 Arg TGT>CGT c.677 6


Patients:
goto HGMD 312700-0008 (8)
Polymorphism 678c/t tgcct/tgtct c.678 6 -SfaNI

Patients:

(1)

References

  1. Anonymous Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 1998; Hum.Mol.Genet. 7: 1185-1192.
    Link Goto Top
  2. Chan,W.M., Choy,K.W., Wang,J., Lam,D.S., Yip,W.W., Fu,W., and Pang,C.P. Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. 2004; Clin.Experiment.Ophthalmol. 32: 429-432. Link Goto Top
  3. Duval,P.A., Marlhens,F., Griffoin,J.M., Millet,P., Arnaud,B., and Hamel,C.P. X-linked retinoschisis with a novel substitutiveamino acid (P193S) in XLRS1. 1998; Hum.Mutat. Online: Free Online Source Goto Top
  4. Eksandh,L.C., Ponjavic,V., Ayyagari,R., Bingham,E.L., Hiriyanna,K.T., Andreasson,S., Ehinger,B., and Sieving,P.A. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 2000; Arch.Ophthalmol. 118: 1098-1104.
    Link Goto Top
  5. Gehrig,A., Weber,B.H., Lorenz,B., and Andrassi,M. First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 1999; J.Med.Genet. 36: 932-934.
    Link Goto Top
  6. Hayashi,T., Omoto,S., Takeuchi,T., Kozaki,K., Ueoka,Y., and Kitahara,K. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 2004; Am.J.Ophthalmol. 138: 788-798. Link Goto Top
  7. Hiraoka,M., Trese,M.T., and Shastry,B.S. X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. 2000; Biochem.Biophys.Res.Commun. 268: 370-372. Link Goto Top
  8. Hiriyanna,K.T., Bingham,E.L., Yashar,B.M., Ayyagari,R., Fishman,G., Small,K.W., Weinberg,D.V., Weleber,R.G., Lewis,R.A., Andreasson,S., Richards,J.E., and Sieving,P.A. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 1999; Hum.Mutat. 14: 423-427.
    Link Goto Top
  9. Hotta,Y., Fujiki,K., Hayakawa,M., Ohta,T., Fujimaki,T., Tamaki,K., Yokoyama,T., Kanai,A., Hirakata,A., Hida,T., Nishina,S., and Azuma,N. Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. 1998; Hum.Genet. 103: 142-144. Link Goto Top
  10. Huopaniemi,L., Rantala,A., Forsius,H., Somer,M., de la,C.A., and Alitalo,T. Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 1999; Eur.J.Hum.Genet. 7: 368-376. Link Goto Top
  11. Huopaniemi,L., Tyynismaa,H., Rantala,A., Rosenberg,T., and Alitalo,T. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. 2000; Hum.Mutat. 16: 307-314. Link Goto Top
  12. Huopaniemi,L.L., Fellman,J., Rantala,A., Eriksson,A., Forsius,H., de la Chapelle,A., and Alitalo ,T. Secondary sex ratio in the offspring of Finnish retinoschisis carrier females. 1999; Am.J.Hum.Genet. 65: A206 Goto Top
  13. Inoue,Y., Yamamoto,S., Inoue,T., Fujikado,T., Kusaka,S., Ohguro,N., Ohji,M., and Tano,Y. Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. 2002; Am.J.Ophthalmol. 134: 622-624. Link Goto Top
  14. Inoue,Y., Yamamoto,S., Okada,M., Tsujikawa,M., Inoue,T., Okada,A.A., Kusaka,S., Saito,Y., Wakabayashi,K., Miyake,Y., Fujikado,T., and Tano,Y. X-linked retinoschisis with point mutations in the XLRS1 gene. 2000; Arch.Ophthalmol. 93-96. Link Goto Top
  15. Kawano,T., Sato,M., Hikoya,A., Nishimura,K., and Hotta,Y. DNA analysis for diagnosis of x-linked juvenile retinoschisis when clinical examination is difficult in a young child. 2005; Jpn.J Ophthalmol. 49: 268-270. Link Goto Top
  16. Khan,N.W., Jamison,J.A., Kemp,J.A., and Sieving,P.A. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. 2001; Vision Res. 41: 3931-3942. Link Goto Top
  17. Mashima,Y., Shinoda,K., Ishida,S., Ozawa,Y., Kudoh,J., Iwata,T., Oguchi,Y., and Shimizu,N. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. 1999; Hum.Mutat. 13: 338 Link Goto Top
  18. Mendoza-Londono,R., Hiriyanna,K.T., Bingham,E.L., Rodriguez,F., Shastry,B.S., Rodriguez,A., Sieving,P.A., and Tamayo,M.L. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. 1999; Ophthalm.Genet. 20: 37-43.
    Link Goto Top
  19. Nakamura,M., Ito,S., Terasaki,H., and Miyake,Y. Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. 2001; Arch.Ophthalmol. 119: 1553-1554. Link Goto Top
  20. Rodriguez,I.R., Mazuruk,K., Jaworski,C., Iwata,F., Moreira,E.F., and Kaiser-Kupfer,M.I. Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement. 1998; Invest Ophthalmol.Vis.Sci. 39: 1736-1739. Link Goto Top
  21. Sato,M., Oshika,T., Kaji,Y., and Nose,H. Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. 2003; Ophthalmic Res. 35: 295-300. Link Goto Top
  22. Sauer,C.G., Gehrig,A., Warneke Wittstock,R., Marquardt,A., Ewing,C.C., Gibson,A., Lorenz,B., Jurklies,B., and Weber,B.H. Positional cloning of the gene associated with X-linked juvenile retinoschisis. 1997; Nat.Genet. 17: 164-170.
    Link Goto Top
  23. Shinoda,K., Ishida,S., Oguchi,Y., and Mashima,Y. Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. 2000; Ophthalm.Genet. 21: 171-180.
    Link Goto Top
  24. Shinoda,K., Mashima,Y., Ishida,S., and Oguchi,Y. Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. 1999; Ophthalmic Genet. 20: 57-61. Link Goto Top
  25. Shinoda,K., Ohde,H., Ishida,S., Inoue,M., Oguchi,Y., and Mashima,Y. Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. 2004; Graefes Arch.Clin.Exp.Ophthalmol. 242: 561-565. Link Goto Top
  26. Simonelli,F., Cennamo,G., Ziviello,C., Testa,F., de Crecchio,G., Nesti,A., Manitto,M.P., Ciccodicola,A., Banfi,S., Brancato,R., and Rinaldi,E. Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 2003; Br.J.Ophthalmol. 87: 1130-1134. Link Goto Top
  27. Tanimoto,N., Usui,T., Takagi,M., Hasegawa,S., Abe,H., Sekiya,K., Miyagawa,Y., and Nakazawa,M. Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. 2002; Jpn.J.Ophthalmol. 46: 568-576. Link Goto Top
  28. Tsai,F.J., Yang,C.F., Wu,J.Y., Lin,H.J., Lee,C.C., and Tsai,C.H. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with the X-linked juvenile retinoschisis. 2000; Hum.Mutat. Online: Free Online Source Goto Top
  29. Tuvdendorj,D., Isashiki,Y., Ohba,N., Sonoda,S., and Izumo,S. Two Japanese patients with mutations in the XLRS1 gene. 2002; Retina. 22: 354-357. Link Goto Top
  30. Yu,P., Li,J., Li,R., and Zhang,W. [Identification of mutation of the X-linked juvenile retinoschisis gene]. 2001; Zhonghua Yi.Xue.Yi.Chuan Xue.Za Zhi. 18: 88-91. Link Goto Top
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz