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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Nature volume 363, pages 515–521 (1993)Cite this article

Abstract

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.

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Authors and Affiliations

  1. Centre de recherche en Neuroscience, McGill University, and Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, Quebec, H3G1A4, Canada

    Guy A. Rouleau, Mohini Lutchman, Marc Sanson, Claude Marineau & Suzanne Demczuk

  2. Laboratoire de Génétique des Tumeurs,CJF INSERM 9201, Institut Curie, 26 rue d'Ulm, 75231, Paris, Cedex 05, France

    Philippe Merel, Marc Sanson, Jessica Zucman, Khé Hoang-Xuan, Chantal Desmaze, Béatrice Plougastel, Alain Aurias, Olivier Delattre & Gilles Thomas

  3. Neurogenetics Laboratory, Cedar-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, California, 90048, USA

    Stefan M. Pulst

  4. International Agency for Research on Cancer, 150 cours Albert Thomas, 69372, Lyon, Cedex 08, France

    Gilbert Lenoir

  5. Institute for Human Genetics, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands

    Emilia Bijlsma

  6. Institut für Humangenetik, Universität Erlangen-Nürnberg, Schwabachanlage 10, 8520, Erlangen, Germany

    Raimund Fashold

  7. Department of Clinical Genetics, Karolinska Institutet, PO Box 60500, 104 01, Stockholm, Sweden

    Jan Dumanski

  8. Human Genome Center, Lawrence Livermore National Laboratory, PO Box 5507, Livermore, California, 94550, USA

    Pieter de Jong

  9. Clinical Epidemiology Branch, National Cancer Institute, National Institute of Health, Bethesda, Maryland, 20894, USA

    Dilys Parry

  10. Retired, United States Public Health Service, Bethesda, Maryland, 20894, USA

    Roswell Eldrige

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  1. Guy A. Rouleau
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  2. Philippe Merel
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Rouleau, G., Merel, P., Lutchman, M. et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363, 515–521 (1993). https://doi.org/10.1038/363515a0

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