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Isolation of a candidate gene for Norrie disease by positional cloning

Nature Genetics volume 1, pages 199–203 (1992)Cite this article

An Erratum to this article was published on 01 September 1992

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.

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Authors and Affiliations

  1. Department of Human Genetics, University of Nijmegen, P.O.Box 9101, 6500HB, Nijmegen, The Netherlands

    W. Berger, T.J.R. van de Pol, F.P.M. Cremers & H.H. Ropers

  2. Abteilung für Pädiatrische Genetik, Kinderpoliklinik, Universität M¨nchen, Germany

    A. Meindl, C. Döerner & T. Meitinger

  3. ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK

    A. Monaco

  4. Ophthalmic Research Institute, Department of Ophthalmogenetics, University of Amsterdam, The Netherlands

    A.A.B. Bergen & E.M. Bleeker-Wagemakers

  5. Department of Obstetrics, Gynaecology, and Reproductive Sciences, University of California, San Francisco, California, USA

    R. Lebo

  6. Eye Clinic for the Handicapped, Gentofte Hospital, Copenhagen, Denmark

    M. Warburg

  7. Medical Faculty, University of Zagreb, Kroatia

    L. Zergollern

  8. University Eye Clinic, Regensburg, Germany

    B. Lorenz

  9. Institute for Human Genetics, Medical University, Lübeck, Germany

    A. Gal

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  4. F.P.M. Cremers
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  7. A. Monaco
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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

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