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GENATLAS PHENOTYPE
last update : 12/03/08
Symbol AUTS1
Location 7q35
Name autism spectrum disorder, 1
Other name(s) autism 1 type
Corresponding gene CNTNAP2
Other symbol(s) ASD
Main clinical features
  • clinically characterized by ADOS/ADI-R- defined autism with language deficit and potential gender bias and parent-of-origin effects, may also be associated with seizures
  • male-only containing families
    • Genetic determination multigenic
    Function/system disorder
    Type susceptibility factor
    Gene product
    Name neurexine family member
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   unknown functional variants : I869T, rs2710102, rs7794745
    nonsense   truncated protein homozygous CNTNAP2 loss-of-function gene mutation in a single family
    Remark(s)
  • genomewide linkage, family-based association mapping and gene-expression studies
  • associated to polymorphisms in CNTNAP2