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Dev Neurobiol. 2014 Feb;74(2):85-112. doi: 10.1002/dneu.22150. Epub 2013 Dec 17.

A blueprint for research on Shankopathies: a view from research on autism spectrum disorder.

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  • 1Centre for Research in Neuroscience, Department of Neurology, McGill University Health Centre, Montreal, Quebec, H3G1A4, Canada.


Autism spectrum disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies.

Copyright © 2013 Wiley Periodicals, Inc.


Shank3; autism; neurodevelopmental disorders; synaptic genes

[PubMed - indexed for MEDLINE]
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