Contribution of SHANK3 mutations to autism spectrum disorder.
paper
Cited
Public
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- Authors
- Moessner, Rainald; Marshall, Christian R; Sutcliffe, James S; Skaug, Jennifer; Pinto, Dalila; Vincent, John; Zwaigenbaum, Lonnie; Fernandez, Bridget; Roberts, Wendy; Szatmari, Peter; Scherer, Stephen W
- Year
- 2007
- Journal
- American journal of human genetics
- PMID
- 17999366
- DOI
- 10.1086/522590
- PMCID
- PMC2276348
Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.
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| Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome. | Lei D et al. | — | 2016 | → |
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| Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects. | Zhou Y et al. | — | 2016 | → |
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| Prenatal valproate treatment produces autistic-like behavior and increases metabotropic glutamate receptor 1A-immunoreactivity in the hippocampus of juvenile rats. | Peralta F et al. | — | 2016 | → |
| Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism. | Filice F et al. | — | 2016 | → |
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| Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development. | Harris KP et al. | — | 2016 | → |
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| A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population. | Shao S et al. | — | 2014 | → |
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| Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission. | Kouser M et al. | — | 2013 | → |
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| Scaffolding proteins of the post-synaptic density contribute to synaptic plasticity by regulating receptor localization and distribution: relevance for neuropsychiatric diseases. | Iasevoli F et al. | — | 2013 | → |
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| Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism. | Duffney LJ et al. | — | 2013 | → |
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| SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. | Han K et al. | — | 2013 | → |
| The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations. | Ey E et al. | — | 2013 | → |
| Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell migration, neurogenesis, synapse formation, and dendritic spine development. | Yang K et al. | — | 2013 | → |
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