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 ResearchConceptsC-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
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 8q24.3Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Tan Q, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Network U, Shashi V, Pena L, Alejandro M, Azamian M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Goldman A, Hanchard N, Jamal F, Karaviti L, Lalani S, Lee B, Lewis R, Marom R, Moretti P, Murdock D, Nicholas S, Orange J, Orengo J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Cope H, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Tan Q, Walley N, Aaron A, Beggs A, Berry G, Briere L, Cooper C, Donnell-Fink L, Fieg E, High F, Korrick S, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walker M, Walsh C, Esteves C, Glanton E, Holm I, Kohane I, McCray A, Might M, LeBlanc K, Bick D, Birch C, Boone B, Brown D, Dorset D, Jones A, Lazar J, Levy S, May T, Newberry J, Worthey E, Batzli G, Colley H, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Bonner D, Coakley T, Davidson J, Dries A, Enns G, Fernandez L, Fisher P, Friedman N, Hom J, Huang Y, Kohler J, Majcherska M, Marwaha S, McCormack C, Merker J, Reuter C, Sampson J, Smith K, Waggott D, Wheeler M, Zastrow D, Zhao C, Allard P, Barseghyan H, Butte M, Dell'Angelica E, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Lee H, Loo S, Martin M, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Signer R, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Behnam B, Burke E, D'Souza P, Davids M, Draper D, Estwick T, Ferreira C, Godfrey R, Groden C, Johnston J, Lau C, Macnamara E, Maduro V, Markello T, Morimoto M, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sharma P, CamiloToro, Wahl C, Yu G, Gropman A, Baker E, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Yang J, Postlethwait J, Westerfield M, Bican A, Brokamp E, Duncan L, Hamid R, Kozuira M, Newman J, Phillips J, Rives L, Robertson A, Shakachite L, Cogan J. Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features. Molecular Case Studies 2018, 4: a003046. PMID: 29970384, PMCID: PMC6169826, DOI: 10.1101/mcs.a003046.Peer-Reviewed Original ResearchConceptsShwachman-Diamond syndromeBone marrow abnormalitiesShwachman-DiamondPediatric patientsClinical featuresPancreatic insufficiencyDe novo variantsLike syndromeMarrow abnormalitiesMetaphyseal abnormalitiesPathogenic variantsBiallelic variantsMetaphyseal dysplasiaWhole-exome sequencing dataNovo variantsRecent evidenceEquivocal evidenceCausative genesPatientsPhenotypic featuresSyndromeAbnormalitiesPhenotypeFurther evidenceInitial indication
2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Mulkey SB, Ben‐Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang Y, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H. Epilepsia 2017, 58: 436-445. PMID: 28139826, PMCID: PMC5339037, DOI: 10.1111/epi.13676.Peer-Reviewed Original ResearchConceptsNonepileptic myoclonusClinical presentationFunction variantsMultifocal epileptiform dischargesProminent clinical featureDistinct clinical presentationsProfound developmental delayBurst-suppression patternInstitutional review boardNeonatal encephalopathyClinical featuresEpileptic spasmsNeonatal periodNeonatal seizuresRespiratory dysfunctionPatient RegistryMedical recordsNeonatal presentationElectrophysiologic propertiesEpileptiform dischargesParoxysmal movementsTherapeutic approachesPatientsBrain volumeMyoclonus
2014
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.Peer-Reviewed Original ResearchMeSH Keywords1-Alkyl-2-acetylglycerophosphocholine EsteraseAge of OnsetBrainChild, PreschoolChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 2DNA Copy Number VariationsDNA-Binding ProteinsFaciesFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHeterogeneous-Nuclear RibonucleoproteinsHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMicrotubule-Associated ProteinsPhenotypeSpasms, InfantileConceptsInfantile spasmsEpileptic encephalopathyChinese childrenCNV lossDistinct clinical presentationsCopy number variantsPathogenicity of CNVsAutism spectrum disorderCausative genesMajority of casesWhole-exome sequencingRole of CNVsGeneralized seizuresClinical featuresClinical presentationClinical spectrumPrimary diagnosisSevere developmental disabilitiesSpasmConclusionOur findingsMBD5 geneReal-time qPCRExome sequencingGenetic factorsDifferent ethnic backgrounds
2011
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Wang X, McCoy PA, Rodriguiz RM, Pan Y, Je HS, Roberts AC, Kim CJ, Berrios J, Colvin JS, Bousquet-Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, Beaudet AL, Wetsel WC, Jiang YH. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics 2011, 20: 3093-3108. PMID: 21558424, PMCID: PMC3131048, DOI: 10.1093/hmg/ddr212.Peer-Reviewed Original ResearchConceptsPostsynaptic densityMajor clinical featuresHomer1b/cRole of Shank3Activity-dependent redistributionAutism spectrum disorderLong-term potentiationHuman ASD patientsSynaptic scaffolding proteinsHomozygous mutant miceClinical featuresMajor isoformsSynaptic dysfunctionAbnormal social behaviorCA1 hippocampusMale miceCognitive dysfunctionSynaptic transmissionExcitatory synapsesDendritic spinesMotor coordinationAMPA receptorsBehavioral abnormalitiesSHANK3 mutationsSevere impairment
2009
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end