Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
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DOI：
10.1038/ng1933
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发表时间：
2007-01-01
期刊：
影响因子：
30.8
通讯作者：
Bourgeron, Thomas
中科院分区：
文献类型：
--
作者：
Durand, Christelle M.;Betancur, Catalina;Bourgeron, Thomas
SHANK 3（也称为ProSAP 2）调节树突棘的结构组织，是神经配蛋白的结合伴侣;编码神经配蛋白的基因在自闭症和自闭症综合征中发生突变。在这里，我们报告了染色体22 q13上SHANK 3单拷贝突变可导致语言和/或社交障碍。这些突变只涉及一小部分个体，但它们揭示了一种与自闭症谱系障碍有关的基因剂量敏感性突触通路。
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.