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A duplication in the L1CAM gene associated with X–linked hydrocephalus

Nature Genetics volume 4, pages 421–425 (1993)Cite this article

Abstract

Recently, a mutation in the gene for the neural cell adhesion molecule L1CAM, located at chromosome Xq28, was found in a family with X–linked hydrocephalus (HSAS). However, as the L1CAM mutation could only be identified in one HSAS family, it remained unclear whether or not L1CAM was the gene responsible for HSAS. We have conducted a mutation analysis of L1CAM in 25 HSAS families. The mutation reported previously was not found in any of these families. In one family, however, a 1.3 kilobases (kb) genomic duplication was identified, cosegregating with HSAS and significantly changing the intracellular domain of the L1CAM protein. These results confirm that L1CAM is the HSAS gene.

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Authors and Affiliations

  1. Department of Medical Genetics, University of Antwerp — UIA, 2610, Antwerp, Belgium

    Guy Van Camp, Lieve Vits, Paul Coucke & Patrick J. Willems

  2. Unité de Recherches sur les Handicaps Génétiques de l'enfant INSERM U-12, Hôpital des Enfants-Malades, 75743, Paris, Cedex 15, France

    Stanislas Lyonnet & Arnold Munnich

  3. Department of Genetics and Cell Biology, State University of Limburg, 6201 BX, Maastricht, The Netherlands

    Connie Schrander-Stumpel

  4. Department of Psychiatry, County of San Mateo, California, 94403, USA

    John Darby

  5. Cytogenetics and DNA Research Laboratory, Ongwanada, K7M8A6, Kingston, Canada

    Jeanette Holden

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Camp, G., Vits, L., Coucke, P. et al. A duplication in the L1CAM gene associated with X–linked hydrocephalus. Nat Genet 4, 421–425 (1993). https://doi.org/10.1038/ng0893-421

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