2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.Peer-Reviewed Original ResearchConceptsMitochondrial flavin adenine dinucleotideCaspase-independent typeRespiratory complex assemblyFunctional studiesApoptosis inducer staurosporineGalactose-containing mediumNicotinamide adenine dinucleotide (phosphate) oxidoreductaseApoptotic stimuliSteady-state levelsComplex assemblyGene productsReactive oxygen speciesMitochondrial deficiencyTissue-specific effectsNuclear condensationFlavin adenine dinucleotideReduced abundanceMitochondrial complexesComplex IPyruvate dehydrogenaseMitochondrial dysfunctionPatient cellsExome sequencingOxygen speciesElevated sensitivity
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
2017
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
Tan Q, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Molecular Case Studies 2017, 3: a002063. PMID: 28729373, PMCID: PMC5701308, DOI: 10.1101/mcs.a002063.Peer-Reviewed Original ResearchConceptsAnterior horn cell diseaseCell diseasePathogenic variantsMotor neuron diseaseBiallelic missense mutationsSpinal muscular atrophyWhole-exome sequencingMotor weaknessRespiratory supportRespiratory difficultyNeuron diseaseMotor phenotypePerinatal periodPrenatal symptomsContracture syndromeMuscle biopsySevere formFetal akinesiaMuscular atrophyDiseaseMRNA exportLethal arthrogryposisTranslation initiationPerinatal lethalityArthrogryposisGenetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing
Wang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang YH, Wang Y. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific Reports 2017, 7: 40319. PMID: 28074849, PMCID: PMC5225856, DOI: 10.1038/srep40319.Peer-Reviewed Original ResearchConceptsNGS panelCaucasian childrenEtiology of epilepsyLikely pathogenic variantsTargeted exome sequencingGenetic variantsSingle nucleotide variantsUnknown etiologyEpilepsy patientsSpecific treatmentEpilepsyEpilepsy disordersPathogenic variantsPathologic variantsGenetic susceptibilityEpilepsy genesExome sequencingEtiologyGenetic factorsEpilepsy familiesChinese childrenCandidate genesClinicNovel candidate genesChildren
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 mutationsDetection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing. American Journal Of Human Genetics 2013, 93: 249-263. PMID: 23849776, PMCID: PMC3738824, DOI: 10.1016/j.ajhg.2013.06.012.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingASD risk genesGenetic variantsThorough bioinformatics analysisRisk genesDe novoRelevant genetic variantsBioinformatics analysisDeleterious variantsHigh heritabilityGenomic heterogeneityGenesPutative mutationsMutationsNovo mutationsGenetic causeASD probandsSequencingNovoFamilyCHARGE syndromeVariantsUnreported mutationsCAPRIN1
2012
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang Y, Sun ZS. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation 2012, 33: 1635-1638. PMID: 22865819, DOI: 10.1002/humu.22174.Peer-Reviewed Original ResearchConceptsExtensive bioinformatics analysisNext-generation sequencing technologiesExtreme genetic heterogeneityStrong genetic etiologyGene discoveryWhole-exome sequencesDifferent missense mutationsBioinformatics analysisSequencing technologiesAutism susceptibilityMissense mutationsANK3Genetic heterogeneityMutationsNovo mutationsExome sequencingMolecular pathophysiologyGenetic causeGenetic etiologyASD susceptibilitySynaptic functionNovel mutationsNeurodevelopmental disordersGenesSequencing
2004
EPIGENETICS AND HUMAN DISEASE
Jiang YH, Bressler J, Beaudet AL. EPIGENETICS AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2004, 5: 479-510. PMID: 15485357, DOI: 10.1146/annurev.genom.5.061903.180014.Peer-Reviewed Original ResearchConceptsHuman diseasesComplex disease traitsRole of epigeneticsHeritable changesChromatin structureGenomic imprintingDNA sequencesEpigenetic phenotypesDisease traitsGene expressionImprinting defectsGenetic scansBeckwith-Wiedemann syndromeGenesDisease phenotypeUniparental disomyDe novoEpigeneticsPhenotypeGenetic disordersExpressionChromatinEpimutationsTraitsMutationsA mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
Jiang Y, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal Of Medical Genetics Part A 2004, 131A: 1-10. PMID: 15389703, DOI: 10.1002/ajmg.a.30297.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAutistic DisorderBlotting, SouthernBlotting, WesternBrainChromosome AberrationsChromosomes, Human, Pair 15Deoxyribonuclease BamHIDeoxyribonuclease HpaIIDNADNA MethylationFemaleGene DuplicationHumansIn Situ Hybridization, FluorescenceMaleModels, GeneticMutationPedigreeUbiquitin-Protein LigasesConceptsOligogenic inheritanceComplex disease traitsGenome-wide studiesAbnormal DNA methylationE6-AP proteinDe novoGenetic modelsRole of UBE3AUbiquitin ligaseDNA methylationEpigenetic abnormalitiesDisease traitsAutism brainPaternal duplicationChromosome 15qUBE3AGenetic contributionRegion downstreamGenesOligogenic modelInheritanceProteinNovoLigaseBrain samples
1999
Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome
Tsai T, Jiang Y, Bressler J, Armstrong D, Beaudet A. Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome. Human Molecular Genetics 1999, 8: 1357-1364. PMID: 10400982, DOI: 10.1093/hmg/8.8.1357.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsAutoantigensBrainChromosome DeletionFemaleGene ExpressionGenomic ImprintingHumansLigasesMaleMiceMice, Inbred StrainsMuscle HypotoniaMutagenesis, Site-DirectedOpen Reading FramesPedigreePhenotypePrader-Willi SyndromeRibonucleoproteins, Small NuclearRNASnRNP Core ProteinsUbiquitin-Protein LigasesConceptsOpen reading framePartial lethalityExon 2Pathogenesis of PWSUpstream open reading framesObvious phenotypic abnormalitiesMouse chromosome 7CGenomic imprintsImprinted expressionPrader-Willi syndromeHuman translocationImprinted genesGene ContributingStructural genePaternal deficiencyChromosome 7CPaternal chromosomesGenotype/phenotype correlationHuman chromosomesMethylation patternsImprinting mutationsReading frameMultiple genesLoss of expressionSNRPN