Gene: ARX

Alternate names for this Gene: CT121|EIEE1|ISSX|MRX29|MRX32|MRX33|MRX36|MRX38|MRX43|MRX54|MRX76|MRX87|MRXS1|PRTS

Gene Summary: This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy.

Gene is located in Chromosome: X

Location in Chromosome : Xp21.3

Description of this Gene: aristaless related homeobox

Type of Gene: protein-coding

rs1556055108 in ARX gene and Dysmorphic features PMID 22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.

PMID 27781032 2016 Genetic Basis of Brain Malformations.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.

PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

rs104894743 in ARX gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 12376946 2002 Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

PMID 11889467 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

PMID 15726411 2005 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 17490853 2007 Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

PMID 26029707 2015 Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 17664401 2007 Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

PMID 15533998 2004 A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.

PMID 17331656 2007 Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 21204215 2011 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

PMID 16235064 2006 Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

PMID 12874418 2003 Polyalanine expansion of ARX associated with cryptogenic West syndrome.

PMID 19507262 2009 Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

PMID 19606478 2009 A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 22922607 2012 Novel mutation in ARX associated with early hand preference and a mild phenotype.

PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

rs104894741 in ARX gene and Lissencephaly, X-Linked, 2 PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

rs28935479 in ARX gene and MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 11889467 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 15533998 2004 A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.

PMID 26029707 2015 Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

PMID 15726411 2005 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

PMID 17664401 2007 Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 17490853 2007 Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

PMID 16235064 2006 Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

PMID 21204215 2011 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

PMID 17331656 2007 Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 22922607 2012 Novel mutation in ARX associated with early hand preference and a mild phenotype.

PMID 19507262 2009 Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 12874418 2003 Polyalanine expansion of ARX associated with cryptogenic West syndrome.

PMID 19606478 2009 A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

rs1556055108 in ARX gene and Muscle hypotonia PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.

PMID 27781032 2016 Genetic Basis of Brain Malformations.

PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

PMID 22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

rs104894745 in ARX gene and Proud Syndrome PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.