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last update : 10-10-2017
Symbol PRTS
Location Xp22.12
Name Partington mental retardation syndrome
Other name(s) Partington syndrome
Corresponding gene ARX
Other symbol(s) MRXS1, MRX36
Main clinical features
  • syndromic, with dystonic movements, focal hand dystonia, ataxia, seizures (West syndrome) dysarthria, facial muscle weakness, autism, lower limb spasticity
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name aristaless-related homeobox
    Gene mutationChromosome rearrangementEffectComments
    duplication   abnormal protein/loss of function  
  • binding of these expanded polyalanine tract mutant ARX proteins to IPO13 may be less efficient than that of the normal ARX protein and may lead to compromised nuclear import, contributing in part to the molecular pathogenesis of these disorders
  • Genotype/Phenotype correlations
  • mutation expanding the second tract of polyA , associated to moderate to severe mental retardation, dystonic movement of the hands, and dysarthria