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Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

Nature Genetics volume 2, pages 139–143 (1992)Cite this article

Abstract

A candidate gene for Norrie disease, an X–linked disorder characterized by blindness, deafness and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients. No strong homologies were identified. By studying the number and spacing of cysteine residues, we now detect homologies between the Norrie gene product and a C–terminal domain which is common to a group of proteins including mucins. Three newly–characterized missense mutations, replacing evolutionarily conserved cysteines or creating new cysteine codons, emphasize the functional importance of these sites. These findings and the clinical features of this disorder suggest a possible role for the Norrie gene in neuroectodermal cell–cell interaction.

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Authors and Affiliations

  1. Abteilung für Pädiatrische Genetik, Kinderpoliklinik der Universität München, Goethestrasse 29, 8000, München, 2, Germany

    Alfons Meindl, Thomas Meitinger, Helene Achatz, Christa Dörner & Heide Hellebrand

  2. Deprtment of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

    Wolfgang Berger, Dorien van de Pol, Frans Cremers & Hans-Hilger Ropers

  3. Martinsried Institute for Protein Sequences, Martinsried, Germany

    Martina Haasemann

  4. Institut für Humangenetik, Lübeck, Germany

    Andreas Gal

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  1. Alfons Meindl
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  2. Wolfgang Berger
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Meindl, A., Berger, W., Meitinger, T. et al. Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins. Nat Genet 2, 139–143 (1992). https://doi.org/10.1038/ng1092-139

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  • DOI: https://doi.org/10.1038/ng1092-139

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