FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: autism spectrum disorder, susceptibility to, 18
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General Information
Name
autism spectrum disorder, susceptibility to, 18
FlyBase ID
FBhh0001275
Overview

This report describes autism spectrum disorder, susceptibility to, 18 (AUTS18); AUTS18 exhibits autosomal dominant inheritance. The human gene implicated in this form of autism is CHD8, which encodes a member of a gene family of DNA helicases that act as chromatin remodeling factors and contribute to regulation of transcription. See the report for 'autism spectrum disorder, susceptibility to, CHD6-9-related' (FBhh0001276) for information on a Drosophila model of autism using the fly ortholog of CHD8.

[updated Nov. 2020 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 (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]

Specific Disease Summary: autism spectrum disorder, susceptibility to, 18
OMIM report

[INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY; IDDAM](https://omim.org/entry/615032)

Human gene(s) implicated

[CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8](https://omim.org/entry/610528)

Symptoms and phenotype
Genetics

The SFARI Gene autism database ( https:gene.sfari.org ) rates the gene-autism association for CHD8 as high confidence (score 1). [2020.11.01]

Susceptibility to autism-18 (AUTS18) is conferred by heterozygous mutation in the CHD8 gene. [from MIM:615032; 2020.11.01]

Cellular phenotype and pathology
Molecular information

CHD8 encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domain; members of this family have been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. [Gene Cards, CHD8; 2020.11.03]

External links
Disease synonyms
autism spectrum disorder, susceptibility to, CHD8-related
AUTS18
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one: 4 human genes to 1 Drosophila gene; the human genes are CHD6, CHD7, CHD8, and CHD9.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        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
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (4)