Retina International's Scientific Newsletter
	Mutation Database Mutations of the Norrie Disease Gene

Recent update from: 18.07.99

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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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