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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 16-03-2013
Symbol AUTS2
Location 7q11.22
Name autism spectrum disorder, 2
Other name(s) autism, pervasive development disorder
Corresponding gene AUTS2
Other symbol(s) DRPLAIP1
Main clinical features
  • mental retardation with/without autism
  • intellectual disability, developmental delay, dysmorphic features, autism , and skeletal abnormalities
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    psychiatry disorder
    Type susceptibility factor
    Gene mutationChromosome rearrangementEffectComments
      breakpoint   translocations disrupting the AUTS2 gene in four unrelated individuals
    Genotype/Phenotype correlations
  • in-frame exonic deletions in the 5prime part of the gene (exons 15) showed a milder phenotype mainly restricted to neurocognitive defects with no or limited dysmorphology or were normal, but n contrast, deletions of the C-terminal part, encoded by both the short and full-length transcripts, cause a more severe phenotype including dysmorphology (PMID: 23332918))