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

By C. Durand, C. Betancur, Tobias M. Boeckers, Juergen Bockmann, Pauline Chaste, F. Fauchereau, G. Nygren, M. Råstam, I. Gillberg, H. Anckarsäter and 13 more. Nature Genetics, 2007

1,531 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/3914152287344d060a5d7b88d4289f01c6910802

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Citations in the corpus

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “Furthermore, duplications spanning SHANK3 have also been reported in a patient with Asperger and in two patients with ID and dysmorphic features (Durand et al. 2007; Okamoto et al. 2007).”
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015, positive): “While these genes have been previously considered definitive ASD risk loci (Berkel et al., 2010; Durand et al., 2007; Leblond et al., 2014; Pinto et al., 2010; Sanders et al., 2011), the current analysis allows a side-by-side comparison of the evidence in favor of association of these loci with the…”
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. (2011, background): “3 microdeletion (Ben‐Shachar et al., 2009), 22q13 duplication including SHANK3 (Durand et al., 2007), NRXN1 deletion (Wisniowiecka‐ Kowalnik et al., 2010), PTEN mutation, Bannayan‐Riley‐Ruvalcaba syndrome (Lynch et al., 2009), MED12 mutation, Lujan‐Fryns syndrome (Schwartz et al., 2007), 22q11…”
Interneuron dysfunction in psychiatric disorders (2012, background): “Shank3 encodes a scaffolding protein that interacts with neuroligins and has been linked to ASD”
Advances in autism genetics: on the threshold of a new neurobiology (2008, neutral): “Similarly, deletions involving 22q13 have been recognized for some time, but the important role of SH3 and multiple ankyrin repeat domains 3 ( SHANK3 ; a synaptic adaptor protein) was appreciated only after resequencing and CNV analysi”
Advancing the understanding of autism disease mechanisms through genetics (2016, positive): “…and neuroligins 137 ), excitatory synaptic scaffolding molecules (including the SH3 and multiple ankyrin-repeat domain (SHANK) proteins 43,74,138,139 ), the excitatory glutamatergic receptor GRIN2B 43,44,73 and inhibitory GABAergic receptor (GABAR) sub-units 43,73,140 , and exonic deletions in…”
Copy-number variations associated with neuropsychiatric conditions (2008, background): “SHANK3 is known, from other rigorous studies involving mutation screening, to be a rare monogenic cause of AS”
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, background): “Sibling CNVs (number of regions)g 68 (34) 36 (18) 34 (17)”
A genome-wide scan for common alleles affecting risk for autism (2010, background): “Rare deletion CNVs of SHANK3 and the surrounding 22q13.”