2012
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.Peer-Reviewed Original ResearchMeSH Keywords3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)AdolescentAmino Acids, Branched-ChainAnimalsArginineAutistic DisorderBase SequenceBrainChildChild, PreschoolDietEpilepsyFemaleHomozygoteHumansIntellectual DisabilityMaleMiceMice, KnockoutMolecular Sequence DataMutationPedigreePhosphorylationProtein FoldingProtein Structure, TertiaryRNA, MessengerYoung AdultConceptsBranched-chain ketoacid dehydrogenaseBrain amino acid profilesPlasma branched-chain amino acidsIntellectual disabilityBranched-chain amino acidsTreatable syndromeNeurobehavioral deficitsTreatable formSomatic treatmentsDietary supplementationKnockout miceEpilepsyPhosphorylation-mediated inactivationConsanguineous familyReciprocal social interactionSyndromeKetoacid dehydrogenaseAmino acid profileMessenger RNAAutism spectrum disorderE1α phosphorylationDisabilitySpectrum disorderHeterogeneous constellationAcid profileDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Šestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.Peer-Reviewed Original Research
2011
Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Ercan-Sencicek A, Wright N, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism. Brain And Development 2011, 34: 700-703. PMID: 22178197, PMCID: PMC3343226, DOI: 10.1016/j.braindev.2011.11.003.Peer-Reviewed Case Reports and Technical NotesRare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathwayUse of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics 2011, 20: 4360-4370. PMID: 21865298, PMCID: PMC3196886, DOI: 10.1093/hmg/ddr363.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderComparative Genomic HybridizationDNA Copy Number VariationsExonsFemaleHumansMaleMixed Function OxygenasesConceptsCopy number variantsSingle protein-coding geneProtein-coding genesNumber variantsSingle nucleotide polymorphism arrayArray comparative genomic hybridizationExonic copy number variantsSmall copy number variantsComparative genomic hybridizationFirst enzymeUnique exonsX chromosomeRefSeq genesGenomic variantsHeterogeneous genetic etiologyOligonucleotide arraysPolymorphism arrayIndividual B cellsClonal outgrowthAutism familiesExonic deletionsGenomic hybridizationSimons Simplex CollectionHemizygous deletionSomatic mutations
2008
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.Peer-Reviewed Original ResearchConceptsAutism susceptibility candidate 2Contactin 4Plasma membrane fractionSynaptic plasma membrane fractionMolecular cytogenetic analysisComplex genetic etiologyRare variantsBioinformatics approachConserved positionNonsynonymous changesMembrane fractionRare homozygous mutationControl chromosomesBiochemical analysisNeurodevelopmental syndromeGenetic etiologyPathophysiology of ASDCandidate 2Recent findingsHomozygous mutationUnrelated familiesCytogenetic analysisMutationsVariantsResequencing