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X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Nature Genetics volume 7, pages 402–407 (1994)Cite this article

Abstract

X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X–linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families. Two of the HSAS mutations would abolish cell surface expression of L1 and represent the first functional null mutations in this disorder. Our results indicate that these three syndromes form part of a clinical spectrum resulting from a heterogeneous group of mutations in the L1 gene.

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Author information

Authors and Affiliations

  1. Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK

    Monique Jouet, Giles Armstrong, John MacFarlane & Susan Kenwrick

  2. Institut für Molekulare Biotechnologie, Jena, Germany

    André Rosenthal

  3. Greenwood Genetic Center, Greenwood, South Carolina, USA

    Roger Stevenson

  4. Duncan Guthrie Institute of Medical Genetics, Glasgow, UK

    Joan Paterson

  5. Howard Hughes Medical Institute, University of California, San Francisco, USA

    Aïda Metzenberg

  6. Department of Pediatrics, University Hospital of Iowa, Iowa City, Iowa, USA

    Victor Ionasescu

  7. Princess Anne Hospital, Southampton, UK

    Karen Temple

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  1. Monique Jouet
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  2. André Rosenthal
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Jouet, M., Rosenthal, A., Armstrong, G. et al. X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7, 402–407 (1994). https://doi.org/10.1038/ng0794-402

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