METAP1mutation is a novel candidate for autosomal recessive intellectual disability

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dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorAktar, Fesih
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorBaranoski, Jacob F.
dc.contributor.authorAkgumus, Gozde Tugce
dc.contributor.authorHarmanci, Akdes Serin
dc.contributor.authorErson-Omay, Emine Zeynep
dc.date.accessioned2024-02-23T14:16:43Z
dc.date.available2024-02-23T14:16:43Z
dc.date.issued2021
dc.departmentNEÜen_US
dc.description.abstractIntellectual disability (ID) is a genetic and clinically heterogeneous common disease and underlying molecular pathogenesis can frequently not be identified by whole-exome/genome testing. Here, we report four siblings born to a consanguineous union who presented with intellectual disability and discuss theMETAP1pathway as a novel etiology of ID. Genomic analyses demonstrated that patients harbor a novel homozygous nonsense mutation in the geneMETAP1.METAP1codes for methionine aminopeptidase 1 (MetAP1) which oversees the co-translational excision of the first methionine remnants in eukaryotes. The loss-of-function mutations to this gene may result in a defect in the translation of many essential proteins within a cell. Improper neuronal function resulting from this loss of essential proteins could lead to neurologic impairment and ID.en_US
dc.description.sponsorshipYale Program on Neurogenetics; Yale Center for Mendelian Genomics; National Human Genome Research Institute [UM1HG006504]; GSP Coordinating Center [U24HG008956]en_US
dc.description.sponsorshipThis work was supported by the Yale Program on Neurogenetics and Yale Center for Mendelian Genomics. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. The GSP Coordinating Center (U24HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.en_US
dc.identifier.doi10.1038/s10038-020-0820-0
dc.identifier.endpage218en_US
dc.identifier.issn1434-5161
dc.identifier.issn1435-232X
dc.identifier.issue2en_US
dc.identifier.pmid32764695en_US
dc.identifier.scopus2-s2.0-85089073159en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage215en_US
dc.identifier.urihttps://doi.org/10.1038/s10038-020-0820-0
dc.identifier.urihttps://hdl.handle.net/20.500.12452/12755
dc.identifier.volume66en_US
dc.identifier.wosWOS:000556668300001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofJournal Of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleMETAP1mutation is a novel candidate for autosomal recessive intellectual disabilityen_US
dc.typeArticleen_US

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