Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Råstam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme

doi:10.1038/ng1933

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M Durand, Catalina Betancur, Tobias M Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Råstam, I Carina Gillberg, Henrik Anckarsäter, Eili Sponheim, Hany Goubran-Botros, Richard Delorme

Barn- och ungdomspsykiatri

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

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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.

Originalspråk	engelska
Sidor (från-till)	25-27
Tidskrift	Nature Genetics
Volym	39
Nummer	1
DOI	https://doi.org/10.1038/ng1933
Status	Published - 2006

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10.1038/ng1933

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Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Råstam, M., Gillberg, I. C., Anckarsäter, H., Sponheim, E., Goubran-Botros, H., & Delorme, R. (2006). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39(1), 25-27. https://doi.org/10.1038/ng1933

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title = "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders",

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.",

author = "Durand, {Christelle M} and Catalina Betancur and Boeckers, {Tobias M} and Juergen Bockmann and Pauline Chaste and Fabien Fauchereau and Gudrun Nygren and Maria R{\aa}stam and Gillberg, {I Carina} and Henrik Anckars{\"a}ter and Eili Sponheim and Hany Goubran-Botros and Richard Delorme",

year = "2006",

doi = "10.1038/ng1933",

language = "English",

volume = "39",

pages = "25--27",

journal = "Nature Genetics",

issn = "1546-1718",

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Durand, CM, Betancur, C, Boeckers, TM, Bockmann, J, Chaste, P, Fauchereau, F, Nygren, G, Råstam, M, Gillberg, IC, Anckarsäter, H, Sponheim, E, Goubran-Botros, H & Delorme, R 2006, 'Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders', Nature Genetics, vol. 39, nr. 1, s. 25-27. https://doi.org/10.1038/ng1933

TY - JOUR

T1 - Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

AU - Durand, Christelle M

AU - Betancur, Catalina

AU - Boeckers, Tobias M

AU - Bockmann, Juergen

AU - Chaste, Pauline

AU - Fauchereau, Fabien

AU - Nygren, Gudrun

AU - Råstam, Maria

AU - Gillberg, I Carina

AU - Anckarsäter, Henrik

AU - Sponheim, Eili

AU - Goubran-Botros, Hany

AU - Delorme, Richard

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1038/ng1933

DO - 10.1038/ng1933

M3 - Article

C2 - 17173049

SN - 1546-1718

VL - 39

SP - 25

EP - 27

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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