G.2083Page1GlobalResearchjournalofNaturalScience&Technology(GRJNST)Volume:04-Issue3(2026),2083ISSNP:2790-7643ISSNE:2790-7651www.grjnst.nethttps://doi.org/10.53762/grjnst.04.03.04MutationalAnalysisofTRAPPC9INNon-syndromicIntellectualDisabilityinSelectedPatientsReceived:28March2026.Accepted:20April2026.Published:8May2026MubaraMubasharDepartmentofZoology,LahoreCollegeforWomenUniversity,Lahore,PakistanFarvaRazzaqMahamSuperiorCampusforUniversityPrograms,MandiBahauddin,PakistanSamanMumtazDepartmentofZoology,LahoreCollegeforWomenUniversity,Lahore,PakistanFarooqAhmadSustainableDevelopmentStudyCentre,GCUniversityLahore,PakistanFizzaHassanSustainableDevelopmentStudyCentre,GCUniversityLahore,PakistanLaraibSaleemDepartmentofZoology,LahoreCollegeforWomenUniversity,Lahore,PakistanHafizaKomalNaeemDepartmentofAgriculture,UniversityofFlorence,ItalyCorrespondingAuthorEmail:fagondal82@gmail.comGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04Copyright©2026GRJNST.ThisarticleispublishedunderanOpenAccessmodel.ItismadeavailabletothepublicunderthetermsoftheCreativeCommonsAttribution4.0International(CCBY4.0)license,whichpermitsunrestricteduseanddistributionG.2083AbstractPage2Intellectualincapacity(identity)isaneurodevelopmentalcircumstancecharacterizedthroughgoodsizedobstaclesincognitivefunctioningandadaptivebehavior,withonsetbeforetheageof18.Itisusuallydiagnosedinearlyformativeyearsduetodevelopmentaldelaysinmotor,cognitive,andspeechabilities,andisgenerallydescribedbywayofanIQunder70.Identityisclassedintosyndromicandnon-syndromickindsandfurtherdividedintomild,mild,extreme,andprofoundcategoriesbasedtotallyonseverity.Thistakesalookatcenteredonnon-syndromicidentificationpatients,regardingmedicalevaluationandgeneticevaluation.Bloodsampleshavebeenaccrued,andDNAbecameanalyzedtheusageofPCRwithTRAPPC9geneprimers,followedbygelelectrophoresisandsequencing.Nomutationbecamedetectedinexon14oftheTRAPPC9gene,suggestingthewantforbroadergeneticinvestigationstohigherunderstandandhelpreducetheprevalenceofintellectualincapacity.Keyword:Mutation,Syndrome,Neurodevelopment,Patients,CognitivebehaviorINTRODUCTIONIntellectualdisability(identity)isaneurodevelopmentalsicknesscharacterizedthroughtremendousobstaclesincognitivefunctioningandadaptivebehavior,withonsetbefore18yearsofage,affectingabout1.five–2%ofthepopulace.itisgenerallyidentifiedinchildhoodbecauseofdevelopmentaldelays,eventhoughformalanalysisisbasedonanIQunderneath70.Individualswithidareatahigherdangerofintellectualhealthissuesascomparedtotheirgenerallygrowingpeers.Identificationisassessedintosyndromicandnon-syndromicbureaucracy;syndromicidentificationincludesadditionalbodilyormetabolicabnormalities,whilenon-syndromicidincludesisolatedcognitiveimpairment.GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page3Eachgeneticandenvironmentalelementsmakeacontributiontoid,alongwithchromosomalabnormalitiesandmonogenicmutations(X-connectedandautosomal)(Marangietal.,2013).Consanguinity,particularlywell-knownincountrieslikePakistan,drasticallywillincreasetheprevalenceofautosomalrecessivehighbrowdisability.Neurodevelopmentalproblemsregularlyproportionoverlappingsymptomsandgeneticmechanisms,relatedtopathwaysconsistingofproteinsynthesis,transcriptionalregulation,andsynapticsignaling.someofthegenesimplicated,TRAPPC9encodestheNIBPprotein,whichperformsacrucialroleinneurogenesis,synapticplasticity,andmyelinationviaNF-κBsignaling.MutationsinTRAPPC9areassociatedwithnon-syndromicidentificationandmaypresentwithfunctionsincludingmicrocephaly,speechimpairment,andbrainabnormalities(Abbasietal.,2017).IntentionwastoanalyzemutationsinsidetheTRAPPC9geneinpatientswithnon-syndromicintellectualdisability.Basicgoalswastoperceivethegeneticfoundationofhighbrowimpairmentthroughoutageagencies,increaseawarenessaboutinheritedgeneticproblems,andexplorecapabilitynovelgenemutations.METHODOLOGYAffectedindividualswereclinicallyevaluatedwiththeassistanceofqualifiedpsychiatrists.Detailedassessmentswereconductedtoidentifycognitive,behavioral,anddevelopmentalabnormalitiesassociatedwithintellectualdisability(ID).Clinicalhistory,includingdevelopmentalmilestones,speechdevelopment,andbehavioralpatterns,wasrecorded.Thisevaluationhelpedinconfirmingthediagnosisofintellectualdisabilityanddistinguishingbetweensyndromicandnon-syndromiccases.GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page4FamilieswithmorethanthreeaffectedindividualswereidentifiedfromthedistrictofMandiBahauddin,Punjab.Fieldvisitswereconductedtocollectdetailedfamilyhistoriesanddemographicinformation.Pedigreechartswereconstructedforeachfamilytoanalyzeinheritancepatternsandidentifypossiblemodesoftransmission,particularlyfocusingonautosomalrecessiveinheritanceduetohighconsanguinityrates.Onlyfamiliesmeetingtheinclusioncriteriawereenrolledinthestudy.Priortosamplecollection,informedconsentwasobtainedfromallparticipantsortheirguardians.Approximately5–10mlofperipheralbloodwascollectedfromeachaffectedindividualusingsteriletechniques.BloodsampleswerecollectedinEDTA-containingfalcontubestopreventcoagulation.Thesampleswereproperlylabeledandtransportedtothelaboratoryundercontrolledconditions.Forpreservation,thesampleswerestoredat−20°Cuntilfurtherprocessing.GenomicDNAwasextractedfrombloodsamplesusingastandardprotocolfollowedatLCWU.Theextractionprocessinvolvedcelllysistoreleasecellularcontents,followedbydigestionofproteinsusingproteinaseK.Proteinswereprecipitatedusingsaturatedsodiumchloride(NaCl),andDNAwassubsequentlyprecipitatedusingisopropanol.Thismethodensuredtheisolationofhigh-qualityDNAsuitablefordownstreammolecularanalysis.Day1:CellLysisandWashingFrozenbloodsampleswerethawedatroomtemperatureusingtapwater.Tris-EDTA(T.E)bufferwasaddedintwostepstoensurepropermixingandcellsuspension.Thesamplesunderwentmultiplewashingstepsfollowedbycentrifugationat3000rpmfor25–30minutesat25°C.Aftereachcentrifugation,thesupernatantwasdiscarded,andthepelletwasresuspended.Thiswashingprocesswasrepeatedthreetofourtimestoremoveimpuritiesandobtainacleancellpellet.GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page5Afterthefinalwash,TNEbufferwasaddedtodissolvethepellet,followedbytheadditionof10%SDSandproteinaseKtofacilitateproteindigestion.Thesampleswereincubatedovernightat37°Cinashakingincubatortoensurecompletelysisanddigestion.Day2:ProteinRemovalandDNAPrecipitationOnthesecondday,sampleswerecheckedforcompletedigestion.ChilledNaClwasaddedtoprecipitateproteins,followedbyincubationinthefreezer.Aphenol-chloroform-isoamylalcohol(PCI)solutionwasthenadded,andsamplesweregentlymixed.Centrifugationwasperformedtoseparatethelayers,andtheupperaqueouslayercontainingDNAwascarefullytransferredtonewtubes.EqualvolumesofisopropanolwereaddedtoprecipitateDNA,whichappearedasvisiblethreads.TheDNAwasthencentrifuged,andthepelletwaswashedwith70%ethanoltoremoveimpurities.Afterdrying,theDNApelletwasdissolvedinlowTNEbufferandincubatedovernighttoensurecompletedissolution.Day3:DNAStabilizationandStorageOnthethirdday,samplesweretreatedtoinactivatenucleasesbyincubatingat65–70°Cinawaterbath.Aftercooling,DNAsamplesweretransferredintolabeledscrew-captubesandstoredinduplicateat−20°C.DNAconcentrationandintegritywerelaterassessedusingagarosegelelectrophoresis.DNAQuantificationDNAconcentrationandqualityweredeterminedusingagarosegelelectrophoresis.A0.8%agarosegelwaspreparedusingTBEbuffer,andethidiumbromidewasaddedforDNAvisualizationunderUVlight.DNAsamplesmixedwithloadingdyewereloadedintowells,andelectrophoresiswasperformedfor25–30minutes.ThegelwasvisualizedGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page6usingageldocumentationsystem,andDNAconcentrationwasestimatedbycomparingbandintensitywithknownDNAstandards.ThismethodalsoallowedassessmentofDNAintegrity.PolymeraseChainReaction(PCR)PCRwasperformedtoamplifyspecificregionsoftheTRAPPC9genepriortosequencing.ThereactionmixturewaspreparedusingextractedgenomicDNA,gene-specificprimers,nucleotides(dNTPs),buffer,andTaqDNApolymerase.PCRConditionsPCRamplificationwascarriedoutusingathermalcyclerwiththefollowingconditions:Initialdenaturationat94°Cfor5minutesDenaturationat94°Cfor30secondsAnnealingat59°Cfor30secondsExtensionat72°Cfor30secondsFinalextensionat72°Cfor10minutesThesestepswererepeatedformultiplecyclestoensuresufficientamplificationofthetargetDNAregion.DenaturationDuringdenaturation,thedouble-strandedDNAwasseparatedintosinglestrandsbybreakinghydrogenbondsathightemperatures(94–98°C).ThisstepiscriticalforallowingprimerstobindtotheDNAtemplateinsubsequentsteps.AnnealingIntheannealingstep,primersspecifictotheTRAPPC9genebindtocomplementarysequencesonthesingle-strandedDNAtemplates.Thetemperature(59°C)wasoptimizedbasedonprimercharacteristicstoensurespecificityandefficientbinding.ExtensionGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page7Duringextension,TaqDNApolymerasesynthesizednewDNAstrandsbyaddingnucleotidescomplementarytothetemplatestrandat72°C.ThisstepresultedintheamplificationofthetargetDNAregion.Pre-SequencingPreparationFollowingPCRamplification,theproductswereverifiedthroughgelelectrophoresistoconfirmsuccessfulamplification.ThePCRproductswerethenpurifiedandpreparedforsequencingtoidentifypotentialmutationsintheTRAPPC9gene.ReactionmixtureforPre-sequencingPCRThePCRreactionmixturewaspreparedinatotalvolumeof15μl.Itconsistedof2μlofgenomicDNAwithaconcentrationof50–60ng/μl.Tothis,0.5μlofforwardprimerand0.5μlofreverseprimer(eachat10nmolconcentration)wereadded.Additionally,5μlofmastermixwasincludedinthereaction,alongwith7μlofinjectionwatertomakeupthefinalvolume.PrimersequenceofTRAPPC9GeneTheprimersequencesforexon14oftheTRAPPC9geneweredesignedasfollows:theforwardprimer(F.P)sequencewas5′-GAAGAGGAGCCCCGTACTCT-3′,andthereverseprimer(R.P)sequencewas5′-GTGACCCTCGTGCACACTAC-3′.Theseprimerswereusedtoamplifyaproductwithasizeof247basepairs(bp).RESULTSEthicalapprovalforthisstudywasobtainedfromtheEthicalCommitteeofLahoreCollegeforWomenUniversity(LCWU),Lahore,Pakistan.IntellectuallydisabledfamilieswereidentifiedthroughfieldvisitsinMandiBahauddin,whereaffectedindividualswereclinicallyassessedwiththeassistanceofpsychologists.DiagnosiswasGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page8basedonfactorsincludingspeechdisability,motordelay,age,gender,height,weight,prenatalandpostnatalhistory,andIQlevel.Behavioralcharacteristicssuchasmood,speechpatterns,eatinghabits,sleep,attention,andadditionaltraitslikeaggression,hyperactivity,impulsivity,andtantrumswerealsorecorded.Twofamilieswithintellectualdisabilitywereidentified,andonefamily(PKNSID0091)wasselectedformolecularanalysis.Bloodsampleswerecollectedwithinformedconsentandstoredat−20°C.PedigreeanalysiswasperformedusingCegatsoftware,indicatinganautosomalrecessiveinheritancepatternassociatedwithconsanguinity.DNAwasextracted,followedbyPCRamplificationusingTRAPPC9geneprimers.Gelelectrophoresisconfirmedtheamplifiedproducts,andDNAsequencingwascarriedouttodetectpotentialmutations.Theselectedfamily,fromMandiBahauddin,showedahistoryofcousinmarriagesandincludedthreeaffectedindividualsacrossthreegenerations.Thepedigreesuggestedautosomalrecessiveinheritance,withunaffectedparentsandaffectedoffspring.Allaffectedmembersexhibitednon-syndromicintellectualdisability.Table1.HistoryofaffectedfamilyPKNSID0091FamilyIDPKNSID0091AgeGenderIQLevelMaleSevere25years70kgWeightNo.ofaffected03individualsAtbirthtimeBirthtraumaNeonatal(1stfourFitzafterbirthconditionweeksoflife)GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page9Table2.SignsofdisordersinthepatientwithintellectualdisabilityNo✓✓✓✓✓✓✓✓✓✓✓YesSignsFloppyLimbsProbleminfeedingCleftLipWeakLimbsClubfeetLumponbackLumpatnavelChildhasseriousdelaysinsittingChildhasseriousdelaysinstandingChildhasseriousdelaysinwalkingChildhasdifficultyinseeingindaytimeChildhasdifficultyinseeingatnightChildappearstohavedifficultyinhearing✓✓GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page10Childhasdifficultyin✓understandingChildhasdifficultyinmovingarmsChildlosesconsciousnessat✓sometimesChildcannotnameobjectsliketoys,booksetcChildisnotlearningtodo✓thingslikeotherchildren✓✓SequencingresultswereanalyzedusingChromassoftwaretovisualizeandextractDNAsequencesobtainedfromSangersequencing.ThereferencesequenceoftheTRAPPC9genewasretrievedfromtheEnsembleGenomeBrowser,includingbothexonsandintrons.SequencealignmentwasperformedusingNCBIBLASTbycomparingtheobtained(query)sequencewiththereference(subject)sequenceinFASTAformat.ThequerysequencewascopiedfromChromasandalignedagainstthereferencegenesequencetoidentifyvariations.TheanalysisoffamilyPKNSID0091revealednomutationinexon14oftheTRAPPC9gene.Furtheranalysisisongoingtoinvestigatepotentialmutationsinotherexonsofthegene.GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page11Figure1.Sequencingchromatogramofexon14ofTRAPPC9GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page12Figure2.Nomutationinexon14offamilyPKNSID0091Figure3.PedigreeoffamilyPKNSID0090GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page13Figure4.PedigreeoffamilyPKNSID0091DISCUSSIONIntellectualdisability(ID)isaneurodevelopmentaldisordercharacterizedbysignificantlimitationsincognitivefunctioningandadaptivebehavior,withonsetbefore18yearsofage.Itaffectsapproximately1.5–2%ofpopulationsinWesterncountriesandisusuallydiagnosedwhenIQisbelow70,althoughearlyidentificationoftenoccursduetodevelopmentaldelaysinmotor,speech,andcognitiveskills.IndividualswithIDhaveahigherriskofmentalhealthdisorderscomparedtotypicallydevelopingindividuals.IDisclassifiedintomild,moderate,severe,andprofoundcategories,andmaybesyndromicornon-syndromicinnature.(Meffordetal.,2012).Globally,consanguinityiswidelypracticed,particularlyinSouthAsia,Africa,andtheMiddleEast,withPakistanshowingahighrate(~65%).ThisincreasestheprevalenceGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page14ofautosomalrecessiveintellectualdisability.InPakistan,moderateIDprevalenceisapproximately65/1000andsevereIDabout19/1000.Increasedconsanguinitycontributessignificantlytogeneticdisorders,includingnon-syndromicID(DeLigtetal.,2012).Thepresentstudyfocusedonmolecularanalysisoffamilieswithnon-syndromicintellectualdisabilityfromMandiBahauddin,Punjab.Pedigreeanalysisrevealedanautosomalrecessiveinheritancepattern.Onefamily(PKNSID0091)withthreeaffectedindividualswasselected.BloodsampleswerecollectedatLCWU,DNAwasextracted,andgelelectrophoresisconfirmedDNApresence.PCRamplificationwasperformedusingTRAPPC9geneprimers(Ibrahimetal.,2023).TheTRAPPC9gene,locatedonchromosome8,isinvolvedinNF-κBsignaling,neuronaldevelopment,andintracellularproteintrafficking.Itplaysanimportantroleinneurogenesisandbraindevelopment.AlthoughmutationsinTRAPPC9havebeenassociatedwithintellectualdisability,nopathogenicalterationwasidentifiedinthisstudy.Itsexactfunctionalroleinneuronalimpairmentremainsunclear,particularlywhetherdysfunctionisduetogenemutationordownstreamproteineffects(Wiltonetal.,2020).Figure5.TRAPPC9GeneonChromosome8https://chromodisorder.org/latest-research-articles/chromosome-8p-abnormalities-studied-in-a-group-of-individuals/GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page15InPakistan,cousinmarriageisculturallycommonandisassociatedwithahigherincidenceofgeneticdisorders.Consanguineousfamiliesprovideavaluableresourceforidentifyingnovelgenesduetotheiruniquegeneticbackground.Inthisstudy,familyPKNSID0091wasselectedformolecularanalysis,andTRAPPC9geneprimerswereusedforPCRamplification.However,sequencingresultsshowednomutationintheanalyzedregion.Thissuggeststhatmutationsmaybepresentinotherexonsofthesamegeneorthatothergenesmayberesponsibleforthedisorderinthisfamily.CONCLUSIONThisresearchrevealedthatthereisnomutationdetectedontheTRAPPC9geneatexon14ofIDpatient.So,bythisresearchitisconcludedthatmaybesomeotherexonorgeneishavingmutationforthefamilyPKNSID0091orwecansaythatmaybesomeallelicheterogeneitypresentinthem.REFERENCESAbbasi,A.A.,Blaesius,K.,Hu,H.,Latif,Z.,Picker‐Minh,S.,Khan,M.N.,...andKaindl,A.M.2017.IdentificationofanovelhomozygousTRAPPC9genemutationcausingnon‐syndromicintellectualdisability,speechdisorder,andsecondarymicrocephaly.AmericanJournalofMedicalGeneticsPartB:NeuropsychiatricGenetics,174(8):839-845.Alvarez-Mora,M.I.,Corominas,J.,Gilissen,C.,Sanchez,A.,Madrigal,I.,andRodriguez-Revenga,L.2021.NovelcompoundheterozygousmutationinTRAPPC9gene:therelevanceofwholegenomesequencing.Genes,12(4):557.Amin,M.,Vignal,C.,Eltaraifee,E.,Mohammed,I.N.,Hamed,A.A.,Elseed,M.A.,...andDorboz,I.2022.AnovelhomozygousmutationinTRAPPC9genecausingGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page16autosomalrecessivenon-syndromicintellectualdisability.BMCMedicalGenomics,15(1):1-5.Bessa,C.,Lopes,F.,andMaciel,P.2012.Moleculargeneticsofintellectualdisability.Chelly,J.,Khelfaoui,M.,Francis,F.,Chérif,B.,andBienvenu,T.2006.Geneticsandpathophysiologyofmentalretardation.EuropeanJournalofHumanGenetics,14(6):701-713.Chen,C.,Chen,D.,Xue,H.,Liu,X.,Zhang,T.,Tang,S.,...&Xu,X.(2018).IDGenetics:acomprehensivedatabaseforgenesandmutationsofintellectualdisabilityrelateddisorders.NeuroscienceLetters,685,96-101.Eggermann,T.,PerezdeNanclares,G.,Maher,E.R.,Temple,I.K.,Tümer,Z.,Monk,D.,Mackay,D.J.,Grønskov,K.,Riccio,A.,Linglart,A.,andNetchine,I.2015Imprintingdisorders:agroupofcongenitaldisorderswithoverlappingpatternsofmolecularchangesaffectingimprintedloci.ClinEpigenetics7,123.Forster,S.,Gray,K.M.,Taffe,J.,Einfeld,S.L.,andTonge,B.J.2011.Behaviouralandemotionalproblemsinpeoplewithsevereandprofoundintellectualdisability.JournalofIntellectualDisabilityResearch,55(2);190-198.Hnoonual,A.,Graidist,P.,Kritsaneepaiboon,S.,andLimprasert,P.2019.NovelcompoundheterozygousmutationsintheTRAPPC9geneintwosiblingswithautismandintellectualdisability.FrontiersinGenetics,10,61Ibrahim,N.,Naz,S.,Mattioli,F.,Guex,N.,Sharif,S.,Iqbal,A.,...andReymond,A.2023.ABiallelicTruncatingVariantintheTPRDomainofGEMIN5AssociatedwithIntellectualDisabilityandCerebralAtrophy.Genes,14(3):707Kanwal,M.,Alyas,S.,Afzal,M.,Mansoor,A.,Abbasi,R.,Tassone,F.,andMazhar,K.2015.MoleculardiagnosisoffragileXsyndromeinsubjectswithintellectualGRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04G.2083Page17disabilityofunknownorigin:implicationsofitsprevalenceinregionalPakistan.PLoSOne,10(4):e0122213.Karam,S.M.,Riegel,M.,Segal,S.L.,Félix,T.M.,Barros,A.J.,Santos,I.S.,...abdBlack,M.2015.Geneticcausesofintellectualdisabilityinabirthcohort:Apopulation‐basedstudy.AmericanJournalofMedicalGeneticsPartA,167(6):1204-1214Kaufman,L.,Ayub,M.,andVincent,J.B.2010.Thegeneticbasisofnon-syndromicintellectualdisability:areview.Journalofneurodevelopmentaldisorders,2(4):182-209.Khan,M.A.,Khan,S.,Windpassinger,C.,Badar,M.,Nawaz,Z.,andMohammad,R.M.2016.Themoleculargeneticsofautosomalrecessivenonsyndromicintellectualdisability:amutationalcontinuumandfuturerecommendations.AnnalsofHumangenetics,80(6):342-368.Marangi,G.,Leuzzi,V.,Manti,F.,Lattante,S.,Orteschi,D.,Pecile,V.,...andZollino,M.2013.TRAPPC9-relatedautosomalrecessiveintellectualdisability:reportofanewmutationandclinicalphenotype.EuropeanJournalofHumanGenetics,21(2):229-232.GRJNST,Volume:04-Issue3(2026)/ISSNP:2790-7643ArticleID:2083https://doi.org/10.53762/grjnst.04.03.04