IMR Press / FBE / Volume 2 / Issue 2 / DOI: 10.2741/E130

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article

The aristaless (Arx) gene: one gene for many "interneuronopathies"

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1 Institute of Neurological Science (ISN), National Research Council (CNR), Catania, Italy
2 Unit of Pediatrics, University Hospital “Vittorio Emanuele”, Catania, Italy
3 Department of Health Sciences, University of Molise, Campobasso, Italy
4 Unit of Clinical Pediatrics, Department of Pediatrics, University of Catania, Italy
5 Department of Biological Chemistry, Faculty of Pharmacy, University of Catania, Italy
6 IRCCS Associazione Oasi Maria S.S.- Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy
7 Maternal-Infantile Department, University of Palermo, Italy

*Author to whom correspondence should be addressed.

Academic Editor: Giovanni Li Volti

Front. Biosci. (Elite Ed) 2010, 2(2), 701–710; https://doi.org/10.2741/E130
Published: 1 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 predisposed individuals.

Keywords
ARX
Aristaless gene
Interneuronopathies
West Syndrome
XLAG
Review
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