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Article
The aristaless (Arx) gene: one gene for many "interneuronopathies"
Martino Ruggieri1,Piero Pavone1,Giovanni Scapagnini1,Loriana Romeo1,Ilaria Lombardo1,Giovanni Li Volti1,Giovanni Corsello1,Lorenzo Pavone1
1
Institute of Neurological Science, National Research Council, Catania, Italy. m.ruggieri@isn.cnr.it
DOI: 10.2741/E130 Volume 2 Issue 2, pp.701-710
Published: 01 January 2010
(This article belongs to the Special Issue Biochemical markers in biological fluids)
Abstract

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of the ARX gene. It has yet to be established whether the molecular defect alone could cause a given cerebral abnormality and/or malformation or an additional or related molecular or environmental event could contribute to a given phenotype in molecularly.

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Martino Ruggieri, Piero Pavone, Giovanni Scapagnini, Loriana Romeo, Ilaria Lombardo, Giovanni Li Volti, Giovanni Corsello, Lorenzo Pavone. The aristaless (Arx) gene: one gene for many "interneuronopathies". Frontiers in Bioscience-Elite. 2010. 2(2); 701-710.