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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-9-2009
Symbol AUTS5
Location 2q31.1
Name autism spectrum disorder, 5
Other name(s) autism, pervasive development disorder 5
Corresponding gene SLC25A12
Other symbol(s) 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 mental retardation
    psychiatry disorder
    Type susceptibility factor
    Gene mutationChromosome rearrangementEffectComments
      deletion   two deletions overlapping by approximately 1.1Mb of chromosome 2q24.1, containing just one gene(KCNJ3)but no mutations were found in 47 autistic probands
    Remark(s) linkage