OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP1OMIMUniSTS0*300382GeneTestsLinksARISTALESSRELATEDHOMEOBOXXLINKEDARXGenemaplocusXp2213TEXTCLONINGStrommeetal(2002)identifiedtheARXgeneinthegenomicsequenceofPACclone258N20(GenBankAC002504)inthevicinityofthegeneencodingDNApolymerasealpha(POLA312040)whichmapstoXp223p211Theopenreadingframespans1686bpandencodesaproteinof562aminoacidsNorthernblotandexpressedsequencetag(EST)analysesindicatedthatARXisexpressedpredominantlyinfetalandadultbrainandskeletalmuscleStrommeetal(2002)detectedasingle28kbARXmRNAisoforminbrainand2additionalsmallerARXmRNAsinskeletalmuscleThemouseandzebrafishARXorthologsareexpressedpredominantlyinforebrain(cerebralcortex)andfloorplatewhichsuggestedthatARXproteinisimportantforthemaintenanceofspecificneuronalsubtypesinthecerebralcortexandaxonalguidanceinthefloorplate(Miuraetal1997)GENESTRUCTUREStrommeetal(2002)determinedthattheARXgeneiscomposedof5codingexonsandencompassesagenomicregionofroughly125kbMAPPINGAccordingtoStrommeetal(2002)theARXgeneislocatedapproximately67kbfromthe3primeendofthePOLAgenewhichmapstoXp223p211TheARXandPOLAgenesareintailtotailorientationMOLECULARGENETICSWestsyndromeconsistsofinfantilespasmsanelectroencephalographicpatternofhypsarrhythmiaandsubsequentmentalretardationAnXlinkedsubgroupofWestsyndrome(ISSX308350)wasidentifiedbyFeinbergandLeahy(1977)andmappedtotheshortarmoftheXchromosome(Bruyereetal1999)Strommeetal(2002)identifiedtheARXgeneinthecriticalmappingregionandconsidereditacandidategeneprimarilyonthebasisofitsexpressionpatterninfetalinfantandadultbrainTheyidentifiedmutationsintheARXgenein9familieswithmentalretardation(syndromicandnonspecific)variousformsofepilepsyincludinginfantilespasmsandmyoclonicseizures(seeeg308350and300432)anddystoniaTworecurrentmutationspresentin7familiesresultedinexpansionofpolyalaninetractsoftheARXproteinTheseprobablycausedproteinaggregationsimilartootherpolyalanineandpolyglutaminedisordersTheyalsoidentifiedamissensemutationwithintheARXhomeodomainandatruncationmutationTheyconcludedthatmutationofARXisamajorcontributortoXlinkedmentalretardationandepilepsyInareviewofXlinkedmentalretardationFrintsetal(2002)statedthattheidentificationof11genesunderlyingXlinkedmentalretardationemphasizedthatbothsyndromicandnonspecificXlinkedmentalretardationmaybecausedbymutationsinthesamegeneInadditiontoARXtheylistedtheRSK2(300075)andMECP2genes(300005)Atleast6othergeneshadbeenidentifiedinwhichpolyalanineexpansionscausehumandiseaseHOXD13insynpolydactyly(1429890001)RUNX2incleidocranialdysplasia(6002110003)PABP2inoculopharyngealmusculardystrophy(6022790001)ZIC2inholoprosencephaly(6030730003)HOXA13inhandfootgenitalsyndrome(1429590003)andFOXL2intypeIIblepharophimosis/ptosis/epicanthusinversussyndrome(6055970002)AllotherpolyAandpolyQexpansiondisordersareinheritedalmostexclusivelyinanautosomaldominantmannerwhereasthe2ARXexpansionmutationssegregateasXlinkedrecessiveFemalecarriersarenotclinicallyaffectedandshowarandompatternofXinactivationinbloodleukocytessuggestingalossratherthanagainoffunctionKitamuraetal(2002)usedphenotypicanalysisoftheArxknockoutmousetoidentifyARXasthegeneassociatedwithanXlinkedhumanbrainmalformationXlinkedlissencephalywithabnormalgenitalia(XLAG300215)BecausetheresultsofphenotypicanalysisoftheArxknockoutmouseaswellasthechromosomallocalizationoftheARXgeneimplicateditasaplausibleXLAGcandidategeneKitamuraetal(2002)lookedformutationsinARXin8XLAGprobandsTheydetected8mutationsBienvenuetal(2002)reportedmissensemutationsandinframeduplications/insertionsleadingtoexpansionsofpolyalaninetractsintheARXgeneamong9familialcasesofnonspecificXlinkedmentalretardationInmouseembryosArxexpressionwasspecifictothetelencephalonandventralthalamuswithanabsenceofexpressioninthecerebellumthroughoutdevelopmentTheauthorssuggestedthatsincetherewasanabsenceofdetectablebrainmalformationsinpatientsharboringARXmutationsARXmayhaveanessentialroleinmatureneuronsrequiredforthedevelopmentofcognitiveabilitiesKatoetal(2004)reviewedthemolecularchangesintheARXgeneandtheassociatedphenotypein20genotypicmalesfrom16familiesand9previouslyreportedpatients(Kitamuraetal2002)RemarkablepleiotropywasdemonstratedPrematureterminationmutationsconsistingoflargedeletionsframeshiftsnonsensemutationsandsplicesitemutationsinexons14causedXLAGorhydranencephalywithabnormalgenitalia(see300215)NonconservativemissensemutationswithinthehomeoboxcausedlesssevereXLAGwhereasconservativesubstitutioninthehomeodomain(see3003820015)causedagenesisofthecorpuscallosumwithabnormalgenitalia(300004)Gronskovetal(2004)screened682Danishmaleswithnonspecificdevelopmentaldelay/mentalretardationforpolyalanineexpansionsinARXandidentified4individualswithchangesinfragmentsizeTwopatientshadasinglepolyalanineexpansion(333GCG)whichwasalsoidentifiedin1of188normalmalesand1patienthadapreviouslyreportedpolymorphisminvolvinga24bpdeletionAnotherpatienthadatriplealanineexpansionbutitsdiseasecausingpotentialcouldnotbeevaluatedfurtherduetotheunavailabilityoffamilymembersfortestingGronskovetal(2004)concludedthatthepreviouslydescribedpolyalanineexpansionsinARXarenotacommoncauseofmentalretardation(selectedexamples)0001INFANTILESPASMSYNDROMEXLINKED[ARX(GCG)10+7]In2unrelatedfamilieswithISSX(308350)1Canadianand1BelgianStrommeetal(2002)foundthat8and2malemembersrespectivelyhadanadditionalstretchof7tandemGCGrepeatswithinthenormalstretchof10GCGtripletrepeatsinexon2ThesefamilieshadbeendescribedbyBruyereetal(1999)andClaesetal(1997)TheeffectofthemutationontheproteinproductwaspolyalanineexpansionThehaplotypebackgroundofthemutationwasdifferentinthe2familiesindicatingthatarecurrentmutationhadoccurredThenormaltractof16alanineresidues(aminoacids100115)wasexpandedto230002INFANTILESPASMSYNDROMEXLINKED[ARX24BPDUP]MENTALRETARDATIONXLINKED36INCLUDEDMENTALRETARDATIONXLINKED43INCLUDEDPARTINGTONSYNDROMEINCLUDEDInaNorwegianfamilydescribedbyStrommeetal(1999)Strommeetal(2002)foundthat7maleswithISSX(Westsyndrome308350)hada24bpduplicationinexon2duplicatingnucleotides428451Thisresultedinapolyalanineexpansionfromatractof12alanines(aminoacids144155)toatractof20alaninesThusadifferentpolyalaninetractinexon2wasinvolvedinthese2instancesStrommeetal(2002)foundthesame24bpduplicationintheARXgenein2familieswithXlinkedmentalretardationandin2familieswithPartingtonsyndrome(PRTS309510)The2familiesinwhichPartingtonsyndromewascausedbythe24bpduplicationinexon2wereanAustralianfamilydescribedbyPartingtonetal(1988)andaBelgianfamilydescribedbyFrintsetal(2002)Turneretal(2002)reviewedthe2familiesreportedbyStrommeetal(2002)withXlinkedmentalretardationandthe24bpduplicationTheyconcludedthatthevariableexpressionofthemutationinindividualsfrombothfamiliesincludedmanifestationsofbothWestandPartingtonsyndromesInaddition1individualhadautismand2hadautisticbehavior1ofwhomalsohadepilepsyInafamilyreportedbyClaesetal(1996)withnonspecificXlinkedmentalretardationdesignatedMRX36(see300419)Bienvenuetal(2002)identifiedthe24bpduplicationinexon2oftheARXgeneFrintsetal(2002)suggestedthatthepatientsreportedbyClaesetal(1996)hadmildclinicalfeaturesofPRTSInafamilyreportedbyHameletal(1999)withXlinkedmentalretardationdesignatedMRX43(see300419)Bienvenuetal(2002)identifiedthe24bpduplicationinexon2oftheARXgeneStrommeetal(2003)describedbilateralcystlikecavitiesinboththecerebralandthecerebellarhemispheresThepatientwasa72yearoldmanwholivedinahomeforthementallyhandicappedHewasamemberofafamilyinwhichXlinkedmentalretardationwasduetoa24bpduplicationinexon2theARXgenePolyalanineexpansionsin1ofthe2polyalaninetractsinexon2oftheARXgenerepresentthemostfrequentlyoccurringmutationintheARXgeneandinterfamilialaswellasintrafamilialvariabilityareobservedVanEschetal(2004)reportedafamilyinwhich4maleswithmentalretardationhadtheARX24bpduplicationTheprobandalsohadagenesisofthecorpuscallosumtranssphenoidalencephaloceleandahypothalamicvariantofpartialanteriorhypopituitarismThepatienthadbeenreportedbyGrubbenetal(1990)asbeingbornwithamediancleftlipandpalateandatranssphenoidalencephaloceleOneofhisaffecteduncleshaddysarthriaanddystonicmovementsofthehandsconsistentwithPartingtonsyndromeNoneofthepatientshadseizuresVanEschetal(2004)notedthatcongenitalbasalencephalocelesareveryrareandareclassifiedinto4typesofwhichthetranssphenoidaltypeistheleastfrequent(SuwanwelaandSuwanwela1972)ThereportedendocrinedefectsassociatedwithbasalencephaloceleinvolvemostlyanteriorpituitaryhormonesThepatternofARXexpressioninthebrainduringembryonicdevelopmentsuggestedacausalroleforthemutatedproteinintheoriginoftheencephaloceleintheprobandPartingtonetal(2004)reported3familieswithXlinkedmentalretardationduetothe24bpduplicationintheARXgeneTheyreviewedtheclinicalfindingsinthe46MRXpatientsfrom9familiesthathadbeenreportedwiththismutationandnotedthatmentalretardationrangedfrommildtosevereInfantilespasms(Westsyndrome308350)occurredin125%andlesssevereformsofseizuresin375%Characteristicdystonicmovementsofthehandswereseenin63%anddysarthriain54%Partingtonetal(2004)suggestedthatfocaldystoniainassociationwithmentalretardationmaybediagnosticofthismutationPoirieretal(2005)reported2brotherswithmentalretardationwhohadthe24bpduplicationintheARXgeneandwhosehealthysisterwasheterozygousfortheduplicationTheirunaffectedmotherdidnotapparentlycarrythemutationasdeterminedbydenaturinghighperformanceliquidchromatography(DHPLC)andbyfragmentsizeanalysisbutsemiquantitativefluorescentPCRrevealedhertobeasomaticmosaicwith4%ofherlymphocytesand24%ofherfibroblastsharboringtheduplicationBecauseall3ofherchildrenreceivedtheaffectedXchromosomePoirieretal(2005)suggestedthatthelevelofmosaicismmightbehigherinthemother'sgermcells0003MYOCLONICEPILEPSYXLINKEDWITHMENTALRETARDATIONANDSPASTICITY[ARXPRO353LEU]Schefferetal(2002)describedanAustralianfamilyinwhich6maleshadXlinkedmyoclonicepilepsywithintellectualdisabilityandspasticity(300432)AffectedmembersofthisfamilywerefoundbyStrommeetal(2002)tohaveamissensemutation1058CTcreatingapro353toleu(P353L)aminoacidchange0004INFANTILESPASMSYNDROMEXLINKED[ARX1517BPDEL]InaNorwegianfamilyStrommeetal(2002)foundthat2maleswithISSX(308350)haddeletionof1517bpintheARXgenethatremoved816bpofintron4and701bpofexon5ThedeletionwaspredictedtoresultinanalternativecarboxyterminaloftheARXprotein(R483fs)0005LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARX32BPDELNT420]InaprobandwithXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)founddeletionofnucleotides420451inexon2oftheARXgeneresultinginatruncatedproteinconsistingof140Nterminalaminoacidswith85aminoacidresiduesartificiallyaddedbytheframeshiftmutation0006LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARX1BPDEL790C]Intheirproband2withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)founddeletionofnucleotide790(790delC)inexon2oftheARXgeneresultinginatruncatedproteinconsistingof263Nterminalaminoacidswith60aminoacidresiduesartificiallyaddedInapatientwithXLAGUyaniketal(2003)identifiedthe790CdeletionThepatient'smotherwasaheterozygouscarrierforthemutationThepredictedmutatedproteinlacksthehomeoboxdomain0007LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARXARG332HIS]Intheirproband3withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)founda995GAtransitioninexon2oftheARXgeneresultingintheaminoacidsubstitutionarg332tohis(R332H)Themotherwasheterozygousforthemutation0008LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARXGLN373TER]Intheirproband4withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)founda1117CTtransitioninexon3oftheARXgeneresultinginprematuretermination(gln373toterQ373X)Themotherwasheterozygousforthemutation0009LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARX1BPINS1188C]Intheirproband5withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)foundasinglenucleotideinsertionatnucleotide1188(1188insC)inexon4oftheARXgeneresultinginatruncatedproteincontainingthe396Nterminalaminoacidsplusanadditional134residues0010LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARXEX12DEL]Intheirproband6withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)foundapparentdeletionofexons1and2oftheARXgene0011LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARX1BPDEL1372G]Intheirproband7withXlinkedlissencephalywithabnormalgenitaliaKitamuraetal(2002)foundasinglenucleotidedeletionatnucleotide1372(1372delG)inexon4oftheARXgeneresultinginatruncatedproteinconsistingofthe457Nterminalaminoacidsaccompaniedby4abnormalaminoacids0012LISSENCEPHALYXLINKEDWITHAMBIGUOUSGENITALIA[ARXLEU343GLN]Intheirprobands8and9(whowerebrothers)withXlinkedlissencephalywithabnormalgenitalia(300215)Kitamuraetal(2002)founda1028TAtransversioninexon2oftheARXgeneresultingintheaminoacidsubstitutionleu343togln(L343Q)Theirmotherwasheterozygousforthemutationandtheirfatherandmaternalgrandparentswerenormal0013MENTALRETARDATIONXLINKED54[ARXLEU33PRO]Ina3generationfamilywithnonspecificXlinkedmentalretardationdesignatedMRX54(300419)Bienvenuetal(2002)identifieda98TCtransitionintheARXgenewhichwaspredictedtoresultinaleu33topro(L33P)substitutionintheoctapeptidedomain0014MENTALRETARDATIONXLINKED54[ARXGLY286SER]InafamilywithnonspecificXlinkedmentalretardationdesignatedMRX54(300419)Bienvenuetal(2002)identifiedan856GAtransitionintheARXgenewhichwaspredictedtoresultinagly286toser(G286S)substitution0015CORPUSCALLOSUMAGENESISOFWITHABNORMALGENITALIA[ARXTHR333ASN]InaffectedmembersofthefamilyreportedbyProudetal(1992)inwhich3maleshadXlinkedmentalretardationagenesisofthecorpuscallosumandabnormalgenitalia(300004)Katoetal(2004)identifieda998CAtransversioninexon2oftheARXgeneresultinginathr333toasn(T333N)mutation0016HYDRANENCEPHALYWITHABNORMALGENITALIA[ARXGLU369TER]Inasporadiccaseofhydranencephalywithabnormalgenitalia(see300215)Katoetal(2004)identifiedan1105GTtransversioninexon3oftheARXgeneresultinginaglu369toter(E369X)changeREFERENCES1BienvenuTPoirierKFriocourtGBahiNBeaumontDFauchereauFBenJeemaLZemniRVinetMCFrancisFCouvertPGomotMand11othersARXanovelPrdclasshomeoboxgenehighlyexpressedinthetelencephalonismutatedinXlinkedmentalretardationHumMolecGenet119819912002PubMedID119718792BruyereHLewisMESWoodSMacLeodPJLangloisSConfirmationoflinkageinXlinkedinfantilespasms(Westsyndrome)andrefinementofthediseaselocustoXp213Xp221ClinGenet551731811999PubMedID103344713ClaesSDevriendtKLagaeLCeulemansBDomLCasaerPRaeymaekersPCassimanJJFrynsJPTheXlinkedinfantilespasmssyndrome(MIM308350)mapstoXp114XpterintwopedigreesA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02alopez4/12/2002alopez3/11/2002Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH