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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Nature Genetics volume 34, pages 2729 (2003) | Download Citation

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Abstract

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

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Acknowledgements

We thank the affected individuals and their families for agreeing to participate in this study, the délégation à la recherche clinique de l'assistance publique des hôpitaux de Paris for promoting this study, the Centre d'Investigations Cliniques de l'Hôpital Robert Debré for obtaining the blood samples from the French families, V. Sazdovitch for providing brain samples and C. Bouchier and S. Duthoy for use of the sequencing facilities at the Génopole Pasteur. This work was funded by the French Research Ministry (Actions Concertées Incitatives), the Institut National de la Santé et la Recherche Médicale, France Télécom and the Swedish Medical Research Council.

Author information

Affiliations

  1. Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, Institut Pasteur, 75015 Paris, France.

    • Stéphane Jamain
    • , Hélène Quach
    •  & Thomas Bourgeron
  2. Institut National de la Santé et la Recherche Médicale U513, Faculté de Médecine, Université Paris XII, 94000 Créteil, France.

    • Catalina Betancur
    • , Catherine Colineaux
    • , Bruno Giros
    •  & Marion Leboyer
  3. Department of Child and Adolescent Psychiatry, Göteborg University, 41119 Göteborg, Sweden.

    • Maria Råstam
    • , I. Carina Gillberg
    • , Henrik Soderstrom
    •  & Christopher Gillberg
  4. Department of Child and Adolescent Psychiatry, Hôpital Robert Debré, 75019 Paris, France.

    • Catherine Colineaux
  5. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, 94000 Créteil, France.

    • Marion Leboyer
  6. Saint George's Hospital Medical School, SW17 ORE London, UK.

    • Christopher Gillberg
  7. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden.

    • Christopher Gillberg
    • , Maria Råstam
    • , Carina Gillberg
    • , Agneta Nydén
    •  & Henrik Söderström
  8. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil, France.

    • Marion Leboyer
  9. Institut National de la Santé et la Recherche Médicale U513, Faculté de Médecine, Créteil, France.

    • Catalina Betancur
    • , Anne Philippe
    •  & Bruno Giros
  10. Service de Psychopathologie de l'Enfant et l'Adolescent, Hôpital Robert Debré, Paris, France.

    • Catherine Colineaux
    • , Deborah Cohen
    • , Nadia Chabane
    •  & Marie-Christine Mouren-Siméoni
  11. Institut National de la Santé et la Recherche Médicale U289, Hôpital de la Salpêtrière, Paris, France.

    • Alexis Brice
  12. Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo, Norway.

    • Eili Sponheim
    •  & Ingrid Spurkland
  13. Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo, Norway.

    • Ola H. Skjeldal
  14. Department of Pediatrics, Georgetown University School of Medicine, Washington D.C., USA.

    • Mary Coleman
  15. Children's National Medical Center, George Washington University School of Medicine, Washington, D.C., USA.

    • Philip L. Pearl
  16. New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

    • Ira L. Cohen
    •  & John Tsiouris
  17. Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena, Italy.

    • Michele Zappella
    • , Grazia Menchetti
    •  & Alfonso Pompella
  18. Department of General Psychiatry, University Hospital, Vienna, Austria.

    • Harald Aschauer
  19. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gerpinnes, Loverval, Belgium.

    • Lionel Van Maldergem

Consortia

  1.  Paris Autism Research International Sibpair Study

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Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Thomas Bourgeron.

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DOI

https://doi.org/10.1038/ng1136

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