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General Information
Name
autism spectrum disorder, susceptibility to, 17
FlyBase ID
FBhh0000794
Overview

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]

Disease Summary Information
Parent Disease Summary: autism spectrum disorder, susceptibility to
Symptoms and phenotype
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 (OMIM: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 OMIM:209850; 2017.03.18]
Specific Disease Summary: autism spectrum disorder, susceptibility to, 17
OMIM report
[AUTISM, SUSCEPTIBILITY TO, 17; AUTS17](https://omim.org/entry/613436)
Human gene(s) implicated
[SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2](https://omim.org/entry/603290)
Symptoms and phenotype
Genetics
This form of autism, designated AUTS17, is associated with heterozygous loss-of-function mutation in the SHANK2 gene; exhibits incomplete penetrance. [from OMIM:613436; 2018.04.19]
Cellular phenotype and pathology
Molecular information
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).
External links
Disease synonyms
autism, susceptibility to, 17
AUTS17
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    Many to one: 3 human to 1 Drosophila. The human genes are SHANK1, SHANK2, and SHANK3.
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
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      Publicly Available Stocks
      Selected Drosophila transgenes
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      Publicly Available Stocks
      RNAi constructs available
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      Publicly Available Stocks
      Selected Drosophila classical alleles
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      Publicly Available Stocks
      References (3)