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Brief Communication
Nature Genetics  34, 27 - 29 (2003)
Published online: 31 March 2003; | doi:10.1038/ng1136

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

Stéphane Jamain1, Hélène Quach1, Catalina Betancur2, Maria Råstam3, Catherine Colineaux2, 4, I. Carina Gillberg3, Henrik Soderstrom3, Bruno Giros2, Marion Leboyer2, 5, Christopher Gillberg3, 6 & Thomas Bourgeron1
Paris Autism Research International Sibpair Study: Christopher Gillberg7, Maria Råstam7, Carina Gillberg7, Agneta Nydén7, Henrik Söderström7, Marion Leboyer8, Catalina Betancur9, Anne Philippe9, Bruno Giros9, Catherine Colineaux10, Deborah Cohen10, Nadia Chabane10, Marie-Christine Mouren-Siméoni10, Alexis Brice11, Eili Sponheim12, Ingrid Spurkland12, Ola H. Skjeldal13, Mary Coleman14, Philip L. Pearl15, Ira L. Cohen16, John Tsiouris16, Michele Zappella17, Grazia Menchetti17, Alfonso Pompella17, Harald Aschauer18 & Lionel Van Maldergem19

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.

2  Institut National de la Santé et la Recherche Médicale U513, Faculté de Médecine, Université Paris XII, 94000 Créteil, France.

3  Department of Child and Adolescent Psychiatry, Göteborg University, 41119 Göteborg, Sweden.

4  Department of Child and Adolescent Psychiatry, Hôpital Robert Debré, 75019 Paris, France.

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

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

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

8  Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil, France.

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

10  Service de Psychopathologie de l'Enfant et l'Adolescent, Hôpital Robert Debré, Paris, France.

11  Institut National de la Santé et la Recherche Médicale U289, Hôpital de la Salpêtrière, Paris, France.

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

13  Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo, Norway.

14  Department of Pediatrics, Georgetown University School of Medicine, Washington D.C., USA.

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

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

17  Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena, Italy.

18  Department of General Psychiatry, University Hospital, Vienna, Austria.

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

Correspondence should be addressed to Thomas Bourgeron thomasb@pasteur.fr
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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