Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy

Genomics

Volumn 44, Issue 2, 1997, Pages 247-248

  Shastry, Barkur S ^a   Liu, Xuyang ^a   Hejtmancik, James F ^b   Plager, David A ^c   Trese, Michael T ^a,d  

^a OAKLAND UNIVERSITY   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c INDIANA UNIVERSITY   (United States)

^d WILLIAM BEAUMONT HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DNA FLANKING REGION; DNA SEQUENCE; EXUDATIVE RETINITIS; FAMILIAL DISEASE; GENETIC HETEROGENEITY; HUMAN; PRIORITY JOURNAL; VITREORETINOPATHY; X CHROMOSOME LINKAGE;

EID: 0031238615     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4863     Document Type: Article

References (14)

1. 1. Chen, Z-Y., Batenelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakfield, X. O., and Craig, I. W. (1993). A mutation in the Norrie disease gene associated with X-linked familial exudative vitreoretinopathy. Nature Genet. 5: 180-183.
2. 2. Criswick, V. G., and Schepens, C. L. (1969). Familial exudative vitreoretinopathy. Am. J. Ophthalmol. 68: 578-594.
3. 3. Fuchs, S., Kellner, U., Wedemann, H., and Gal, A. (1995). Missense mutation (Arg 121 Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy. Hum. Mutat. 6: 257-259.
4. 4. Fullwood, P., Jones, P., Bundey, S., Dudgeon, J., Fielder, A. R., and Kilpatric, M. W. (1993). X-linked exudative vitreoretinopathy: Clinical features and genetic linkage analysis. Br. J. Ophthalmol. 77: 168-170.
5. 5. Gow, J., and Oliver, G. L. (1971). Familial exudative vitreoretinopathy: An expanded view. Arch. Ophthalmol. 86: 150-155.
6. 6. Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., and Fernell, R. E. (1996). X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. Clin. Genet. 50: 113-115.
7. 7. Li, Y., Muller, B., Fuhrmann, C., Van Nouhuys, C. E., Laqua, H., Humphries, P., Schwinger, E., and Gal, A. (1992). The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am. J. Hum. Genet. 51: 749-754.
8. 8. Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., and Meitinger, T. (1995). Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum. Mol. Genet. 4: 489-490.
9. 9. Ott, J. (1991). "Analysis of Human Genetic Linkage," 2nd ed., Johns Hopkins Univ. Press, Baltimore.
10. 10. Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M. K., Trese, M. T., and Shastry, B. S. (1992). X-linked recessive familial exudative vitreoretinopathy. Am. J. Ophthalmol. 114: 145-148.
11. 11. Shastry, B. S., Hejtmancik, J. F., Plager, D. A., Hartzer, M. K., and Trese, M. T. (1995). Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics 27: 341-344.
12. 12. Shastry, B. S., and Trese, M. T. (1997). Familial exudative vitreoretinopathy: Further evidence for genetic heterogeneity. Am. J. Med. Genet. 69: 217-218.
13. 13. Shastry, B. S., Hejtmancik, J. F., and Trese, M. T. (1997). Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum. Mutat. 9: 396-401.
14. 14. Tasman, W., and Augsburger, J. J. (1981). Familial exudative vitreoretinopathy. Trans. Am. Ophthalmol. Soc. 79: 211-226.