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]
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996, pubmed:8655659; Risch et al., 1999, pubmed:10417292). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (MIM:608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008; pubmed:18698615). [from MIM:209850; 2017.03.18]
[AUTISM, SUSCEPTIBILITY TO, 17; AUTS17](https://omim.org/entry/613436)
[SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2](https://omim.org/entry/603290)
This form of autism, designated AUTS17, is associated with heterozygous loss-of-function mutation in the SHANK2 gene; exhibits incomplete penetrance. [from MIM:613436; 2018.04.19]
Shank family proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. They are synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses.
SHANK1, SHANK2 and SHANK3 encode members of a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS (Monteiro and Feng, 2017; pubmed:28179641).
Many to one: 3 human to 1 Drosophila. The human genes are SHANK1, SHANK2, and SHANK3.