Phenotypic spectrum of ARXopathies and functional analysis of a truncated human ARX gene product in neural cell cultures

Aim: Hemizygous mutations in the aristaless-related homeobox gene (ARX; Xp22.13), the human orthologue of the Drosophila gene aristaless, cause a wide spectrum of clinical phenotypes. Affected males present with mental retardation, which might be associated with dystonia, myoclonus epilepsy and in the most severe form of X-linked mental retardation with ambiguous genitalia (XLAG) with structural brain abnormalities including agenesis of the corpus callosum and lissencephaly. The aim of this study was to further characterize the genotype-phenotype correlation of ARXopathies and the function of ARX during neuronal…