This report describes autism spectrum disorder, susceptibility to, 17 (AUTS17); AUTS17 exhibits autosomal dominant inheritance with incomplete penetrance. The human gene implicated in this form of autism is SHANK2, which encodes a member of a family of postsynaptic scaffolding proteins that are present in the postsynaptic density of glutamatergic synapses. See the report for 'autism spectrum disorder, susceptibility to, SHANK-related' (FBhh0000793) for information on a Drosophila model of autism using the fly ortholog of SHANK2.
[updated Apr. 2018 by FlyBase; FBrf0222196]