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GENATLAS PHENOTYPE
last update : 07-11-2009
Symbol DCX
Location Xq22.3
Name lissencephaly syndrome 2 (or smooth brain)
Corresponding gene DCX
Other symbol(s) LISX,SCLH,XLIS
Main clinical features
  • neuronal migration disorder resulting in mixed agyria and pachygyria
  • associated with agenesis of corpus callosum
  • characterized by epilepsy and mental retardation, including mild form in heterozygote female with mental retardation and subcortical band heterotopia (double cortex)
  • Genetic determination sex linked
    Prevalence account for 85p100 of patients with subcortical band heterotopia (DCX) (Haverfield 2009)
    Function/system disorder congenital malformation
    mental retardation
    Type MCA/MR
    Gene product
    Name doublecortin (DCX), somatic or germinal mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     non-syndromic mental retardation with cryptogenic epilepsy in female subjects and subcortical band heterotopia in males
    deletion   absent protein a number of large genomic deletions
    Remark(s)