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Journal articles
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Christelle Durand
1
Catalina Betancur
2
Tobias Boeckers
3
Juergen Bockmann
3
Pauline Chaste
1
Fabien Fauchereau
1, 4
Gudrun Nygren
5
Maria Rastam
5
I Carina Gillberg
5
Henrik Anckarsäter
5
Eili Sponheim
6
Hany Goubran-Botros
1
Richard Delorme
1
Nadia Chabane
7
Marie-Christine Mouren-Simeoni
7
Philippe de Mas
8
Eric Bieth
8
Bernadette Rogé
9
Delphine Héron
10
Lydie Burglen
11
Christopher Gillberg
5, 12
Marion Leboyer
2, 13
Thomas Bourgeron
1, 4, *
*
Corresponding author
Christelle M. Durand 1
Author
Catalina Betancur 2
Author IdHAL : catalina-betancur ORCID : https://orcid.org/0000-0002-3327-4804
Tobias M. Boeckers 3
Author
Juergen Bockmann 3
Author
I Carina Gillberg 5
Author
Henrik Anckarsäter 5
Author
Eili Sponheim 6
Author
Hany Goubran-Botros 1
Author
Richard Delorme 1
Author
Nadia Chabane 7
Author
Marie-Christine Mouren-Simeoni 7
Author
Philippe de Mas 8
Author
Christopher Gillberg 5, 12
Author
Marion Leboyer 2, 13
Author
Thomas Bourgeron 1, 4
Correspondent author
1
Génétique Humaine et Fonctions Cognitives (25-28 rue du Docteur Roux F-75724 Paris Cedex 15 - France)
- Institut Pasteur [Paris] (25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)
- CNRS - Centre National de la Recherche Scientifique : URA2182 (France)
2
Neurobiologie et Psychiatrie (9 quai Saint Bernard 75252 Paris Cedex 05 - France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U513 (101, rue de Tolbiac, 75013 Paris - France)
3
Institute for Anatomy and Cell Biology (Ulm - Germany)
- Universität Ulm - Ulm University [Ulm, Allemagne] (Helmholtzstraße 16, 89081 Ulm - Germany)
4
UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
5
Department of Child and Adolescent Psychiatry (Göteborg - Sweden)
- GU - University of Gothenburg (Box 100, SE-405 30 Gothenburg - Sweden)
6
Centre for Child and Adolescent Psychiatry (0319 Oslo - Norway)
- UiO - University of Oslo (P.O 1072 Blindern 0316 Oslo - Norway)
7
Service de psychopathologie de l'enfant et de l'adolescent (48, Bd Sérurier 75019 PARIS - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Robert Debré (France)
- UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
8
Department of Medical Genetics (Toulouse - France)
- Hôpital Purpan [Toulouse] (Place du Docteur Baylac
TSA 40031
31059 Toulouse cedex 9 - France)
- CHU Toulouse [Toulouse] (Hôtel-Dieu Saint Jacques 2, rue Viguerie TSA 80035 31059 Toulouse cedex 9 - France)
9
Centre d'Etudes et de Recherches en PsychoPathologie (Toulouse - France)
- UT2J - Université Toulouse - Jean Jaurès (5 allées Antonio Machado - 31058 Toulouse Cedex 9 - France)
10
Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière] (47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13 - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
- Sorbonne Université (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
11
Service de génétique et embryologie médicales [CHU Trousseau] (26, avenue du Docteur Arnold-Netter 75571 PARIS Cedex 12 - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Sorbonne Université (France)
12
Saint George's Hospital Medical School (London - United Kingdom)
13
Département de Psychiatrie (40 rue de Mesly 94000 Créteil - France)
Abstract : SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
Document type :
Journal articles
Domain :
Complete list of metadatas
https://www.hal.inserm.fr/inserm-00126175
Contributor : Catalina Betancur <>
Submitted on : Monday, August 13, 2007 - 10:43:31 AM
Last modification on : Thursday, December 10, 2020 - 3:43:31 AM
Long-term archiving on: : Tuesday, September 21, 2010 - 1:43:47 PM
Contributor : Catalina Betancur <>
Submitted on : Monday, August 13, 2007 - 10:43:31 AM
Last modification on : Thursday, December 10, 2020 - 3:43:31 AM
Long-term archiving on: : Tuesday, September 21, 2010 - 1:43:47 PM
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- Supp_F1_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_F2_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_F3_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_F4_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_mat_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_notes_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_T1_Durand_SHANK3_Nat_Genet_2007.pdf Other
- Supp_T2_Durand_SHANK3_Nat_Genet_2007.pdf Other
Identifiers
- HAL Id : inserm-00126175, version 2
- DOI : 10.1038/ng1933
- PUBMED : 17173049
Collections
CNRS | PASTEUR | UPMC | UNIV-TLSE2 | SORBONNE-UNIVERSITE | UNIV-PARIS7 | USPC | UNIV-PARIS | UP-SCIENCES | SU-TI
Citation
Christelle Durand, Catalina Betancur, Tobias Boeckers, Juergen Bockmann, Pauline Chaste, et al.. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.. Nature Genetics, Nature Publishing Group, 2007, 39 (1), pp.25-7. ⟨10.1038/ng1933⟩. ⟨inserm-00126175v2⟩
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