Abstract
The gene for Norrie disease, an X–linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7–MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a ‘Pioneer’ protein.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Warburg, M. Acta. Ophthal. 39, 757–772 (1961).
Warburg, M. Acta Ophthalmol. (Suppl. 89) 1–147 (1966).
Norrie, G. Acta Ophthalmol. 5, 357–386 (1927).
Moreira-Filho, C.A. & Neustein, I. J. med. Genet. 16, 125–128 (1979).
Gal, A., Wieringa, B., Smeets, D.F.C.M., Bleeker-Wagemakers, L. M. & Ropers, H.-H. Cytogenet. cell. Genet. 42, 219–224 (1986).
Donnai, D., Mountford, R.C. & Read, A.P. J. med. Genet. 25, 73–78 (1988).
Sims, K.B., Ozelius, L., Corey, T.J. et al. Am. J. hum. Genet. 45, 424–434 (1989).
Collins, F.A., Murphy, D.L., Reiss, A.L. et al. Am. J. med. Genet. 42, 127–134 (1992).
Gal, A., Stolzenberger, C., Wienker, T.F. et al. Clin. Genet. 27, 282–283 (1985).
Bleeker-Wagemakers, L.M. et al. Hum. Genet. 71, 211–214 (1985).
Kivlin, J.D., Sanborn, G.E., Wright, E., Cannon, L. & Carey, J. Am. J. med. Genet. 26, 733–736 (1987).
Gal, A., Bleeker-Wagemakers, L.M., Wienker, T.F., Warburg, M. & Ropers, H.-H. Cytogenet. cell. Genet. 40, 633 (1985).
De la Chapelle, A., Sankila, E.-M., Lindlof, M., Aula, P. & Norio, R. Clin. Genet. 28, 317–320 (1985).
Sims, K.B. et al. Neuron 2, 1069–1076 (1989).
Diergaarde, P.J. et al. Hum. Genet. 84, 22–26 (1989).
Lan, N.C. et al. Genomics 4, 552–559 (1989).
Zhu, D., Antonarakis, S.E., Schmeckpeper, B.J., Diergaarde, P.J., Greb, A.E. & Maumenee, I.H. Am. J. med. Genet. 33, 485–488 (1989).
Ohba, N. & Yamashita, T. Brit. J. Ophthal. 70, 64–71 (1986).
McMahan, M.R. et al. Am. J. hum. Genet. 49, 270a (1991).
Sims, K.B. et al. Am. J. hum. Genet. 49, 389a (1991).
Sims, K.B. et al. Hum. molec. Genet. (in the press).
Katayama, S., Wohlferd, M. & Golbus, M.S. Am. J. med. Genet. 30, 967–970 (1988).
Larin, Z., Monaco, A.P. & Lehrach, H. Proc. natn. Acad. Sci. U.S.A. 88, 4123–4127 (1991).
Nelson, D.L. et al. Proc. natn. Acad. Sci. U.S.A. 86, 6686–6690 (1989).
Van de Pol, T.J.R., Cremers, F.P.M., Brohet, R.M., Wieringa, B. & Ropers, H.-H. Nucl. Acids. Res. 18, 725–731 (1990).
Fickett, J.W. Nucl. Acids. Res. 10, 5303–5319 (1982).
Adams, M.D. et al. Science 252, 1651–1656 (1991).
Gal, A. et al. Hum. Genet. 81, 315–318 (1989).
Ott, J. et al. Proc. natn. Acad. Sci. U.S.A. 87, 701–704 (1990).
Coleman, M., Bhattacharya, S., Lindsay, S. et al. Am. J. hum. Genet. 47, 935–940 (1990).
Vilkki, J., Ott, J., Savontaus, M.-L., Aula, P. & Nikoskelainen, E.K. Am J. hum. Genet. 48, 486–491 (1991).
Miller, S.A. et al. Nucl. Acids. Res. 16, 1215 (1988).
Feinberg, A.P. & Vogelstein, B. Analyt. Biochem. 132, 6–13 (1983).
Feinberg, A.P. & Vogelstein, B. Analyt. Biochem. 137, 266–267 (1984).
Church, G.M. & Gilbert, W. Proc. natn. Acad. Sci. U.S.A. 81, 1991–1995 (1984).
Green, E.D. & Olson, M.V. Proc. natn. Acad. Sci. U.S.A. 87, 1213–1217 (1990).
Cremers, F.P.M., Van de Pol, T.J.R., Van Kerkhoff, L.P.M., Wieringa, B. & Ropers, H.H. Nature 347, 674–677 (1990).
Warburg, M. Acta Ophthal. 53, 217–236 (1975).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Berger, W., Meindl, A., van de Pol, T. et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1, 199–203 (1992). https://doi.org/10.1038/ng0692-199
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0692-199
This article is cited by
-
Therapeutic blood-brain barrier modulation and stroke treatment by a bioengineered FZD4-selective WNT surrogate in mice
Nature Communications (2023)
-
Retinoschisis and Norrie disease: a missing link
BMC Research Notes (2021)
-
From warrior genes to translational solutions: novel insights into monoamine oxidases (MAOs) and aggression
Translational Psychiatry (2021)
-
Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina
Scientific Reports (2018)
-
Clinical and genetic analysis of Indian patients with NDP-related retinopathies
International Ophthalmology (2018)