2022
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Cope H, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, GahlIan-Glass W, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McConkie-Rosell A, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips III J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Schoch K, Scott D, Sharma P, Shashi V, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Spillmann R, Stoler J, StongJ N, Sullivan E, Sullivan K, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, K-GTan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Ariani F, Renieri A, Mari F, Wangler M, Arur S, Jiang Y, Yamamoto S, Shashi V, Bellen H. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics 2022, 31: 2934-2950. PMID: 35405010, PMCID: PMC9433733, DOI: 10.1093/hmg/ddac085.Peer-Reviewed Original ResearchMeSH KeywordsEpilepsyHumansIntellectual DisabilityMicrocephalyMicroRNAsNervous System MalformationsRibonuclease IIIConceptsWhite matter atrophyProgressive neurological disorderDe novo heterozygous variantsNovo heterozygous variantsProfound intellectual disabilityMatter atrophyNervous systemNeurological disordersHeterozygous variantsDysmorphic featuresMissense variantsSevere phenotypeIntellectual disabilityPhenotype characteristicLoss of DroshaLoss of miRNAMiRNA expressionBrain sizeSevere reductionSevere progressive neurological disorderFunctional studiesCauses lossAtrophyEpilepsyCandidate genes
2021
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4
Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutism Spectrum DisorderFrameshift MutationHistonesIntellectual DisabilityMutationNeurodevelopmental DisordersNeuronsRatsConceptsC-terminusGenome-wide transcriptome analysisRahman syndromeUnderstanding of mutationsHistone H1.4Neuronal genesTranscriptome analysisAbnormal C-terminusFunctional categoriesFunctional characterizationNeuropeptide signalingN-terminusDe novo heterozygous mutationsSupport of pathogenicitySmall insertionsFunctional consequencesNovo heterozygous mutationRat hippocampal neuronsFrameshift mutationMutationsH1.4Rare genetic disorderSevere intellectual disabilityGenesClinical features
2020
High genetic burden in 163 Chinese children with status epilepticus
Wang T, Wang J, Ma Y, Zhou H, Ding D, Li C, Du X, Jiang YH, Wang Y, Long S, Li S, Lu G, Chen W, Zhou Y, Zhou S, Wang Y. High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020, 84: 40-46. PMID: 33278787, DOI: 10.1016/j.seizure.2020.10.032.Peer-Reviewed Original ResearchMeSH KeywordsChildChinaDNA Copy Number VariationsHumansIntellectual DisabilityNAV1.7 Voltage-Gated Sodium ChannelRetrospective StudiesStatus EpilepticusConceptsNon-genetic aetiologyGenetic etiologyMonogenic mutationsNumber variation analysisMolecular dataSingle geneNext-generation sequencingGene mutationsPathogenic genetic variantsUncertain significance variantsCausative variantsGenetic variantsMutationsDe novoGenetic burdenStatus epilepticusGenetic testing methodsHigher genetic burdenGenesMedical GeneticsMonogenic variantsVariation analysisVariantsTSC2Genetics
2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3
2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge
Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. Pediatric Research 2016, 80: 371-381. PMID: 27119313, PMCID: PMC5382808, DOI: 10.1038/pr.2016.101.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlgorithmsAutistic DisorderChildChild, PreschoolChromatinComparative Genomic HybridizationCounselingDevelopmental DisabilitiesDNA Copy Number VariationsFemaleGene DeletionGene RearrangementHistone-Lysine N-MethyltransferaseHumansInfantIntellectual DisabilityMaleMicroarray AnalysisNeurodevelopmental DisordersPedigreeProtein MethyltransferasesConceptsNeurodevelopmental disordersAutism spectrum disorderIntellectual disabilityDevelopmental disabilitiesCopy number variationsChromosomal microarray analysisEtiological evaluationClinical evaluationClinical significanceUnknown significanceCNV analysisGenetics clinicEtiology of ASDCounseling familiesDisordersVariable penetranceClinicMicroarray analysisNovel deletionSpectrum disorderDisabilityCounseling challengesFurther supportEtiologyCohort
2013
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy. Neuron 2013, 80: 429-441. PMID: 24139043, PMCID: PMC3820368, DOI: 10.1016/j.neuron.2013.08.013.Peer-Reviewed Original ResearchConceptsCongenital microcephalyProgressive cerebral atrophyStructural brain abnormalitiesCerebral atrophyNeuronal damageEnhanced excitabilityIntractable seizuresAsparagine depletionNeurological impairmentBrain abnormalitiesCortical thicknessLoss of functionASNS deficiencyProgressive formMutant micePatient phenotypesIntellectual disabilityASNS geneMicrocephalyMissense mutationsBrainDeficiencyAspartate/MutationsRecessive mutations
2003
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome. Journal Of Neuroscience 2003, 23: 2634-2644. PMID: 12684449, PMCID: PMC6742065, DOI: 10.1523/jneurosci.23-07-02634.2003.Peer-Reviewed Original ResearchMeSH KeywordsAngelman SyndromeAnimalsCalcium-Calmodulin-Dependent Protein Kinase Type 2Calcium-Calmodulin-Dependent Protein KinasesCells, CulturedHippocampusImmunohistochemistryIntellectual DisabilityLigasesLong-Term PotentiationMiceMutationPhosphoprotein PhosphatasesPhosphorylationProtein KinasesSynapsesThreonineUbiquitin-Protein LigasesConceptsCalmodulin-dependent protein kinase IIProtein kinase IIKinase IIAngelman syndromeCalcium/calmodulin-dependent protein kinase IIMutant animalsMolecular basisMental retardation syndromeMolecular causesCaMKII activityLong-term potentiationCaMKIIPostsynaptic densityRetardation syndromeMouse modelMisregulationMutantsHippocampal long-term potentiationSevere mental retardationMental retardationContext-dependent learningCorresponding changes