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GENATLAS PHENOTYPE
last update : 30-06-2012
Symbol AUTSX1
Location Xq13
Name autism spectrum disorder, X-linked 1
Corresponding gene NLGN3
Main clinical features
  • pervasive developmental disorder characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior
  • variable mental retardation
  • Genetic determination sex linked
    Function/system disorder psychiatry disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function mutation associated to change in the inhibitory/excitatory balance contributes to the pathogenesis of autism spectrum disorder
    Remark(s) . NL3R451C mutation that was associated with highly penetrant autism in a Swedish family , and alters synaptic function in a circuit-dependent manner