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Scientific Newsletter


Mutation Database
Mutations of the Norrie Disease Gene

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
EVR Arg 121 Trp C-T 777
-MspI


(4)
Norrie Disease IVS2+1g-c g-c
IVS2

CS961516
(6)
Norrie Disease IVS1+1g-a g-a
IVS1

CS961515
(6)
Norrie Disease 127insAA ins AA 127




(13)
Norrie Disease 558del4bp del 4 bp 558




(13)
Norrie Disease 694insCA+690insTG complex 694




(15)
Norrie Disease Met 1 Arg ATG-AGG



CM950842
(15)
Norrie Disease Met 1 Val ATG-GTG



CM950843
(9)
Norrie Disease 3ins10bp __________-CTCTCTCTCT 0003 1

CI951921
(15)
Norrie Disease Leu 13 Arg CTC-CGC



CM941079
(7)
Norrie Disease cd 21delC ATACAGA- ATA_AGA



CD951756
(15)
Norrie Disease Ser 29 ter TCA-TGA



CM920498
(11)
Norrie Disease Arg 41 Lys AGG-AAG



CM970959
(16)
Norrie Disease His 42 Arg CAC-CGC



CM970960
(16)
Norrie Disease cd 44delG TGTGGAT-TGT_GAT



CD951757
(15)
Norrie Disease Tyr 44 Cys TAT-TGT



CM920499
(11)
Norrie Disease Ser 57 ter TCA-TGA



CM920500
(1)
Norrie Disease Lys 58 Asn AAG-AAT



CM930502
(8)
Norrie Disease Val 60 Glu GTG-GAG



CM920501
(11)
Norrie Disease Leu 61 Phe CTC-CCC



CM950844
(15)
Norrie Disease Leu 61 Phe CTC-TTC



CM920502
(1)
Norrie Disease Leu 62 Pro T-C





(13)
Norrie Disease Ala 63 Asp GCC-GAC
3
Vascularized retina within posterior pole
not in periphery Preserved Vision upt to age 40
CM950845
(15) (20)
Norrie Disease Cys 65 Tyr TGC-TAC



CM950846
(18)
Norrie Disease Cys 65 Tyr TGC-TAC



CM950847
(15)
Norrie Disease cd 68delT CACTGCA-CAC_GCA



CD951758
(15)
Norrie Disease Cys 69 Ser TGC-TCC



CM930503
(3)
Norrie Disease Arg 74 Cys CGC-TGC



CM920503
(1)
Norrie Disease Ser 75 Cys TCC-TGC



CM920504
(1)
Norrie Disease Arg 90 Pro CGT-CCT



CM920505
(1)
Norrie Disease Cys 95 Arg TGC-CGC



CM950848
(10)
Norrie Disease Cys 96 Tyr TGC-TAC



CM920506
(1)
Norrie Disease cd 96delG GCCGGCC-GCC_GCC



CD920886
(1)
Norrie Disease Lys 104 Gln AAG-CAG



CM950849
(12)
Norrie Disease Ala 105 Thr GCA-ACA



CM970963
(19)
Norrie Disease Leu 108 Pro CTG-CCG



CM970964
(17)
Norrie Disease Arg 109 ter CGA-TGA



CM950850
(15)
Norrie Disease Cys 110 ter TGC-TGA



CM920507
(1)
Norrie Disease Cys 110 Gly TGC-GGA





(19)
Norrie Disease Cys 110 Arg T-A





(13)
Norrie Disease Ser 111 del A del A





(13)
Norrie Disease cd 119del9bp CTACCGGTACATCCT- CTA_________CCT



CD920887
(1)
Norrie Disease Tyr 120 Cys TAC-TGC



CM970966
(16)
Norrie Disease Arg 121 Gly C-G





(13)
(21)
Norrie Disease Arg 121 Gln CGG-CAG



CM930504
(8)
Norrie Disease Ile 123 Asn ATC-TGC



CM950852
(15)
Norrie Disease Cys 124 ter CTC-TTC



CM930505
(2)
Norrie Disease Cys 126 ter TGT-TGA



CM960984
(6)
Norrie Disease Cys 128 ter TGC-TGA



CM950853
(15)
Norrie Disease cd 133delT AATTCCT-AAT_CCT



CD951756
(15)
Norrie Disease 443ins4bp ____-ATCC 443 3

CI920942
(1)
Norrie Disease 544insA ins A 0544




(14)
Norrie Disease 544insA

2



(14)
XEFVR Arg 121 Trp


-MspI


(5)

References

1. Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., and Ropers, H.H. Mutations in the candidate gene for Norrie disease. 1992; Hum.Mol.Genet. 1: 461 - 465.
Goto Top

2. Chen, Z.Y., Battinelli, E.M., Fielder, A., Bundey, S., Sims, K., Breakfield, X.O., and Craig, I.W. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 1993; Nat.Gen. 5: 180 - 183.
Goto Top

3. Chen, Z.Y., Battinelli, E.M., Woodruff, G., Young, I., Breakefield, X.O., and Craig, I.W. Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. 1993; Hum.Mol.Genet. 2: 1727 - 1729.
Goto Top Link to PudMed

4. Fuchs, S., Kellner, U., Wedemann, H., and Gal, A. Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 1995; Hum.Mutat. 6: 257 - 259.
Goto Top Link to PudMed

5. Fuchs, S., Nakazawa, M., Maw, M., Tamai, M., Oguchi, Y., and Gal, A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 1995; Nat.Genet. 10: 360 - 362.
Goto Top Link to PudMed

6. Fuchs, S., van de Pol, D., Beudt, U., Kellner, U., Meire, F., Berger, W., and Gal, A. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. 1996; Hum.Mutat. 8: 85 - 88.
Goto Top Link to PudMed

7. Fuchs, S., Xu, S.Y., Caballero, M., Salcedo, M., La, O., Wedemann, H., and Gal, A. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. 1994; Hum.Mol.Genet. 3: 655 - 656.
Goto Top Link to PudMed

8. Fuentes, J.J., Volpini, V., Fernandez Toral, F., Coto, E., and Estivill, X. Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. 1993; Hum.Mol.Genet. 2: 1953 - 1955.
Goto Top

9. Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., and Kuroda, N. Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. 1995; Hum.Genet. 95: 105 - 108.
Goto Top

10. Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., and Tanabe, U. Mutations in the Norrie disease gene: a new mutation in a Japanese family [letter]. 1995; Br.J.Ophthalmol. 79: 703 - 704.
Goto Top Link to PudMed

11. Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., and Cremers, F. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1992; Nat.Gen. 2: 139 - 143.
Goto Top

12. Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz Valckenberg, P., and Meitinger, T. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. 1995; Hum.Mol.Genet. 4: 489 - 490.
Goto Top

13. Sawano, T., Tanaka, M., Ohta, Y., Terasaki, H., Awaya, S., and Ozawa, T. Analysis of the whole sequence of mitochondrial DNA in two patients with Leber's hereditary optic neuropathy. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1265
Goto Top

14. Schroeder, B., Hesse, L., Bruck, W., and Gal, A. Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene. 1997; Ophthalmic Genet. 18: 71 - 77.
Goto Top

15. Schuback, D.E., Chen, Z.Y., Craig, I.W., Breakefield, X.O., and Sims, K.B. Mutations in the Norrie disease gene. 1995; Hum.Mutat. 5: 285 - 292.
Goto Top

16. Shastry, B.S., Hejtmancik, J.F., and Trese, M.T. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. 1997; Hum.Mutat. 9: 396 - 401.
Goto Top Link to PudMed

17. Shastry, B.S., Liu, X., Hejtmancik, J.F., Plager, D.A., and Trese, M.T. Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. 1997; Genomics. 44: 247 - 248.
Goto Top Link to PudMed

18. Strasberg, P., Liede, H.A., Stein, T., Warren, I., Sutherland, J., and Ray, P.N. A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif. 1995; Hum.Mol.Genet. 4: 2179 - 2180.
Goto Top

19. Torrente, I., Mangino, M., Gennarelli, M., Novelli, G., Giannotti, A., Vadala, P., and Dallapiccola, B. Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy [letter]. 1997; Am.J.Med.Genet. 72: 242 - 244.
Goto Top Link to PudMed

20. Zaremba, J., Feil, S., Juszko, J., Myga, W., van Duijnhoven, G., and Berger, W. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene. 1998; Ophthalmic Genet. 19: 157 - 164.
Goto Top Link to PudMed

21. Zhu, D. and Hussel-Maumanee, I. Mutation analysis of the Norrie disease gene in eleven families. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1265
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