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GENATLAS PHENOTYPE
last update : 27-05-2009
Symbol AUTS9
Location 7q31.2
HGNC id 892
Name autism spectrum disorder, 9
Other name(s) autism, pervasive development disorder
Corresponding gene MET
Other symbol(s) AUT1, ASD
Main clinical features
  • complex neurodevelopmental disorder characterized by impairment in social interaction, restricted and stereotyped behaviors, and deficits in language and communication
    • Genetic determination multigenic
    Function/system disorder psychiatric disorder
    mental retardation
    Type susceptibility factor
    Gene product
    Name transmembrane receptor tyrosine kinase of the hepatocyte growth factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other     common variants
    other   under-expression MET promoter variant rs1858830 C allele
    other   under-expression MET rs38845 A allele
    other   under-expression rare CNV losses
    Remark(s) broad linkage peak on 7q including over 200 mapped genes ; decrease in MET protein observed in brains of individuals with autism ; multiple genes in the MET receptor tyrosine kinase pathway implicated , such as PLAUR and SERPINE1 (7q21);
    Genotype/Phenotype correlations MET participates not only in development of the cerebral cortex and cerebellum, but also contributes to gastrintestinal and immune function, disruption of which may co-occur with autism