6533b7cefe1ef96bd1257c35

RESEARCH PRODUCT

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

M. RuggieriP. PavoneGiovanni ScapagniniL. RomeoI. LombardoG. L. VoltiG. CorselloL. Pavone

subject

Doublecortin ProteinGenotypeLissencephalyBiologyNeuronal migration defectsGeneral Biochemistry Genetics and Molecular BiologyExonMiceGenotype-phenotype distinctionSettore MED/38 - Pediatria Generale E SpecialisticaInterneuronsmedicineAnimalsHumansAbnormalities MultipleGeneZebrafishGeneticsHomeodomain ProteinsGeneral Immunology and MicrobiologyARX homeoboxmedicine.diseasePhenotypeCranial Nerve DiseasesPhenotypeMultigene FamilyMental Retardation X-LinkedHomeoboxAbnormalityTranscription Factors

description

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.

yearjournalcountryeditionlanguage
2009-12-29Frontiers in bioscience (Elite edition)
10.2741/e130https://pubmed.ncbi.nlm.nih.gov/20036914