2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability
Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Journal Of Human Genetics 2020, 66: 215-218. PMID: 32764695, PMCID: PMC7785574, DOI: 10.1038/s10038-020-0820-0.Peer-Reviewed Original ResearchConceptsEssential proteinsAutosomal recessive intellectual disabilityRecessive intellectual disabilityMethionine aminopeptidase 1Genomic analysisHomozygous nonsense mutationFunction mutationsNovel homozygous nonsense mutationNonsense mutationAminopeptidase 1Novel candidatesNeuronal functionMutationsMolecular pathogenesisProteinIntellectual disabilityGenome testingEukaryotesNovel etiologyMetAP1GenesNeurologic impairmentCommon diseasePathwayCells
2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Molecular Case Studies 2016, 2: a001008. PMID: 27626066, PMCID: PMC5002930, DOI: 10.1101/mcs.a001008.Peer-Reviewed Original ResearchRapid-onset dystonia-parkinsonismCommand auditory hallucinationsNovel clinical presentationHemiplegia of childhoodChildhood-onset schizophreniaNovel de novo mutationYr of ageMild motor delayWhole-exome sequencingChromosomal microarray analysisNeuron-specific isoformSodium-potassium pumpClinical presentationDystonia-parkinsonismBehavioral regressionAuditory hallucinationsMotor delayNeuronal functionDe novo mutationsHeterozygous mutationsMutation c.ATP1A3Novo mutationsMicroarray analysisPast functional studies