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GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
duplication		abnormal protein/loss of function

Remark(s)

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