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

被引：1133
作者：
Durand, Christelle M.
Betancur, Catalina
Boeckers, Tobias M.
Bockmann, Juergen
Chaste, Pauline
Fauchereau, Fabien
Nygren, Gudrun
Rastam, Maria
Gillberg, I. Carina
Anckarsater, Henrik
Sponheim, Eili
Goubran-Botros, Hany
Delorme, Richard
Chabane, Nadia
Mouren-Simeoni, Marie-Christine
de Mas, Philippe
Bieth, Eric
Roge, Bernadette
Heron, Delphine
Burglen, Lydie
Gillberg, Christopher
Leboyer, Marion
Bourgeron, Thomas [1 ]
机构：
[1] Inst Pasteur, Human Genet & Cognit Funct, Paris, France
[2] Univ Paris 12, INSERM, U513, Creteil, France
[3] Univ Ulm, Inst Anat & Cell Biol, Ulm, Germany
[4] Univ Paris 07, Paris, France
[5] Univ Gothenburg, Dept Child & Adolescent Psychiat, Gothenburg, Sweden
[6] Univ Oslo, Ctr Child & Adolescent Psychiat, Oslo, Norway
[7] Hop Robert Debre, Assistance Publ Hop Paris, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France
[8] Purpan Hosp, Dept Med Genet, Toulouse, France
[9] Univ Toulouse Le Mirail, Ctr Etud Rech & Psychopathp, Toulouse, France
[10] Grp Hosp Pitie Salpetriere, Dept Genet, F-75634 Paris, France
[11] Hop Trousseau, Assistance Publ Hop Paris, Serv Genet, F-75571 Paris, France
[12] St Georges Hosp Med Sch, London, England
[13] Grp Hosp Henri Mondor & Albert Chenevier, Assistance Publ Hop Paris, Dept Psychiat, Creteil, France
来源：
NATURE GENETICS | 2007年 / 39卷 / 01期
关键词：
D O I：
10.1038/ng1933
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：25 / 27
页数：3
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