Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
CM Durand, C Betancur, TM Boeckers, J Bockmann… - Nature …, 2007 - nature.com
CM Durand, C Betancur, TM Boeckers, J Bockmann, P Chaste, F Fauchereau, G Nygren…
Nature genetics, 2007•nature.comSHANK3 (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.
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.
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.
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