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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Nature Genetics volume 29, pages 17–18 (2001)Cite this article

Abstract

One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency. A locus on 1p35–36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1). Here we refine the locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2). Our identification and analysis of mutations in SEPN1 is the first description of a selenoprotein implicated in a human disease.

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Figure 1: a, PAC sequences were assembled into contigs by the Sanger centre.

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Acknowledgements

We thank the patients and their families for their participation; K. Schwartz, M. Fiszman, F. Tomé and M. Fardeau, for continuous support and constructive discussions; A. Lescure, V. Allamand and U. Wewer for comments and suggestions on the manuscript; G. Boccara, M. Bonay, E. Leguern, B. Riou and the AFM BTR for providing human tissues. This work was supported by funds from the Institut National de la Santé et de la Recherche Médicale (INSERM), Association Française contre les Myopathies (AFM), the European Commission and a Muscular Dystrophy Campaign Grant. B.M. was supported by grants from La Fondation pour la Recherche Médicale (FRM) and La Fondation Bettencourt Schueller.

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Authors and Affiliations

  1. INSERM U523, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris, 75651 CEDEX 13, France

    Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Norma Romero & Pascale Guicheney

  2. Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK

    Martin Brockington & Francesco Muntoni

  3. Hôpital Raymond Poincaré, Garches, France

    Susana Quijano Roy & Brigitte Estournet

  4. Rizzoli Orthopedic Institute, Bologna, Italy

    Luciano Merlini

  5. Service de Neuropédiatrie, Hôpital Saint-Vincent-de-Paul, Paris, France

    Isabelle Desguerre

  6. Clinique Sainte Odile, Strasbourg, France

    Denys Chaigne

  7. Department of Paediatric Neurology, Hacettepe Children's Hospital, Ankara, Turkey

    Haluk Topaloglu

Authors
  1. Behzad Moghadaszadeh
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  2. Nathalie Petit
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  8. Brigitte Estournet
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  9. Isabelle Desguerre
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  11. Francesco Muntoni
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  12. Haluk Topaloglu
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  13. Pascale Guicheney
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Correspondence to Pascale Guicheney.

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Moghadaszadeh, B., Petit, N., Jaillard, C. et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 29, 17–18 (2001). https://doi.org/10.1038/ng713

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