A blueprint for research on Shankopathies: a view from research on autism spectrum disorder.
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.
Centre for Research in Neuroscience, Department of Neurology, McGill University Health Centre, Montreal, Quebec, H3G1A4, Canada.
Salvatore
S
Carbonetto
D000818:Animals; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005544:Forecasting; D059647:Gene-Environment Interaction; D006801:Humans; D008959:Models, Neurological; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D012106:Research / Q000639:trends; D009435:Synaptic Transmission / Q000502:physiology
D009419:Nerve Tissue Proteins; C574178:SHANK1 protein, human; C122162:SHANK2 protein, human; C492357:SHANK3 protein, human
Shank3; autism; neurodevelopmental disorders; synaptic genes