Retina International's Scientific Newsletter
	Mutation Database Mutations of the Rab Escort Protein 1

Recent update from: 18.07.99

References

1. Beaufrere, L., Rieu, S., Hache, J.C., Dumur, V., Claustres, M., and Tuffery, S. Altered rep-1 expression due to substitution at positin +3 of the IVS13 splice-donor site of chooideremia (CHM) gene. 1998; Curr.Eye Res. 17: 726 - 729.
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2. Beaufrere, L., Tuffery, S., Hamel, C., Arnaud, B., Demaille, J., and Claustres, M. A novel mutation (S558X) causing choroideremia. 1996; Hum.Mutat. 8: 395.
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3. Beaufrere, L., Tuffery, S., Hamel, C., Bareil, C., Arnaud, B., Demaille, J., and Claustres, M. The protein truncation test (PTT) as a method of detection for choroideremia mutations. 1997; Exp.Eye Res. 65: 849 - 854.
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4. Beaufrere, L., Tuffery, S., Hamel, C., Bareil, C., Arnaud, B., Demaille, J., and Claustres, M. The protein truncation test as method of detection for choroideremia gene mutations. 1997; Invest.Ophthalmol.Vis.Sci. 38: S797
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5. Donnelly, P., Menet, H., Fouanon, C., Herbert, O., Moisan, J.P., Le Roux, M.G., and Pascal, O. Missense mutation in the choroideremia gene. 1994; Hum.Mol.Genet. 3: 1017
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6. Forsythe, P., Maguire, A., Fujita, R., Moen, C., Swaroop, A., and Bennett, J. A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia. 1997; Exp.Eye Res. 64: 487 - 490.
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7. Fujiki, K., Hotta, Y., Hayakawa, M., Shinagawa, S., Fujimaki, T., Saito, A., Kanai, A., Mashima, Y., Mori, M., Okajima, O., Yoshii, M., Murakami, A., Ishida, M., Yanashima, K., Matsumoto, M., Hayasaka, S., Tagami, N., Isashiki, Y., and Ohba, N. REP-1 Gene Mutations In Japanese Patients With Choroideremia. 1998; Invest.Ophthalmol.Vis.Sci. 39: S294
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8. Hotta, Y., Fujiki, K., Hayakawa, M., Kohno, N., Kitagawa, H., Doi, R., and Kanai, A. A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. 1997; Graefes.Arch.Clin.Exp.Ophthalmol. 235: 653 - 655.
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9. Küsters, U., Preising, M.N., Lorenz, B., and Pawlowitzki, I.H. Characterization of a novel partial deletion of the choroideremia gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: S107
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10. MacDonald, I.M., Chen, M., Mitchell, G., Strasberg, P., Koenekoop, R., and Nesslinger, N. Mutation Analysis Of Canadian Families With Choroideremia. 1996; Invest.Ophthalmol.Vis.Sci. S1146
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11. McTaggart, K.E., Mah, D.Y., Haney, P., Tran, M., Nesslinger, N.J., Greenberg, J., and MacDonald, I.M. Identification of REP-1 gene mutations in families diagnosed with choroideremia. 1998; Am.J.Hum.Genet. 63: A373
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12. Nesslinger, N., Mitchell, G., Strasberg, P., and MacDonald, I.M. Mutation analysis in Canadian families with choroideremia. 1996; Ophthalmic Genet. 17: 47 - 52.
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13. Ponjavic, V., Abrahamson, M., Andreasson, S., Van Bokhoven, H., Cremers, F.P., Ehinger, B., and Fex, G. Phenotype variations within a choroideremia family lacking the entire CHM gene. 1995; Ophthalmic Genet. 16: 143 - 150.
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14. Preising, M. and Pawlowitzki, I.H. Molecular screening of exons A1, A2, and A3 in 41 unrelated males with choroideremia. 1993; Invest.Ophthalmol.Vis.Sci. 34: 1463
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15. Preising, M.N. Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten Erkrankungen. 1999;
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16. Preising, M.N. and Pawlowitzki, I.H. Evaluation Of A Splice Site Mutation In Intron 14 Of The Choroideremia Gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: S107
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17. Sankila, E.M., Tolvanen, R., van den Hurk, J.A., Cremers, F.P., and de la Chapelle, A. Aberrant splicing of the CHM gene is a significant cause of choroideremia. 1992; Nat.Genet. 1: 109 - 113.
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18. Schwartz, M., Rosenberg, T., van den Hurk, J.A., van de Pol, D.J., and Cremers, F.P. Identification of mutations in Danish choroideremia families. 1993; Hum.Mutat. 2: 43 - 47.
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19. Trujillo, M.J., Sanz, R., Rodriguez de Alba, M., Lorda, I., Ramos, C., Ibanez, A., Garcia-Sandoval, B., and Ayuso, C. First Mutation (S340X) in choroideremia gene in a spanish family. 1998; Hum.Mutat. Online:
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Human Mutation Online

20. Van Bokhoven, H., Schwartz, M., Andreasson, S., van den Hurk, J.A., Bogerd, L., Jay, M., Ruther, K., Jay, B., Pawlowitzki, I.H., Sankila, E.M., and et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. 1994; Hum.Mol.Genet. 3: 1047 - 1051.
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21. van den Hurk, J.A., Schwartz, M., Van Bokhoven, H., van de Pol, T.J., Bogerd, L., Pinckers, A.J., Bleeker Wagemakers, E.M., Pawlowitzki, I.H., Ruther, K., Ropers, H.H., and Cremers, F.P. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. 1997; Hum.Mutat. 9: 110 - 117.
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22. van den Hurk, J.A., van de Pol, T.J., Molloy, C.M., Brunsmann, F., Ruther, K., Zrenner, E., Pinckers, A.J., Pawlowitzki, I.H., Bleeker Wagemakers, E.M., Wieringa, B., Ropers, H.H., Cremers, F.P.M., and et al. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. 1992; Am.J.Hum.Genet. 50: 1195 - 1202.
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23. Vnencak Jones, C.I., Manning, S.S., Phillips, J.A., Maumenee-Hussels, I.E., and Garrett, C. Detection of heterogenous choroideremia mutations in non-Scandinavian patient using dideoxyfingerprinting. 1996; Am.J.Hum.Genet. 59: A292
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Contact the editor: irpamp@irpa.org	Return to Database Page	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