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UBR5 Loss-of-function Variants In Autism Spectrum Disorder And Intellectual Disability: Case Series And Review Of The Literature

2025-11-29Artigo científico Acesso aberto
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datacite.subject.fosCiências Médicas
dc.contributor.authorReuter, Miriam S.
dc.contributor.authorSalazar, Nelson Bautista
dc.contributor.authorHowe, Jennifer L.
dc.contributor.authorHoang, Ny
dc.contributor.authorSarikaya, Ege
dc.contributor.authorSelvanayagam, Thanuja
dc.contributor.authorMendes de Aquino, Marla
dc.contributor.authorVicente, Astrid M.
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorFreitag, Christine M.
dc.contributor.authorThiruvahindrapuram, Bhooma
dc.contributor.authorTrost, Brett
dc.contributor.authorScherer, Stephen W.
dc.date.accessioned2026-01-29T11:54:40Z
dc.date.available2026-01-29T11:54:40Z
dc.date.issued2025-11-29
dc.description.abstractUBR5 encodes an E3 ubiquitin-protein ligase which targets distinct N-terminal residues of proteins for degradation. Heterozygous loss-of-function variants were reported in patients with Autism Spectrum Disorder (ASD) and developmental delay, and recently in a cohort of individuals with neurodevelopmental disorders and variable other features. Here, we report three unrelated individuals with de novo loss-of-function variants in UBR5, presenting with ASD and intellectual disability. We review the literature for other de novo predicted loss-of-function variants in probands with ASD or developmental delay (in total n = 11 variants), providing further evidence that UBR5 haploinsufficiency is associated with ASD and atypical neurodevelopmental trajectories, including developmental delay and intellectual disability.eng
dc.description.sponsorshipFunding was provided by the University of Toronto McLaughlin Centre and SickKids Foundation. S.W.S. holds the Northbridge Chair in Paediatric Research at the University of Toronto and The Hospital for Sick Children.
dc.identifier.citationNPJ Genom Med. 2025 Nov 29;11(1):1. doi: 10.1038/s41525-025-00536-x
dc.identifier.doi10.1038/s41525-025-00536-x
dc.identifier.eissn2056-7944
dc.identifier.pmid41318701
dc.identifier.urihttp://hdl.handle.net/10400.18/10782
dc.language.isoeng
dc.peerreviewedyes
dc.publisherNature Research
dc.relation.hasversionhttps://www.nature.com/articles/s41525-025-00536-x
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectAutism Spectrum
dc.subjectUBR5
dc.subjectNeurodevelopmental Disorders
dc.subjectUbiquitination
dc.subjectIntellectual Disability
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleUBR5 Loss-of-function Variants In Autism Spectrum Disorder And Intellectual Disability: Case Series And Review Of The Literatureeng
dc.typejournal article
dcterms.referenceshttps://static-content.springer.com/esm/art%3A10.1038%2Fs41525-025-00536-x/MediaObjects/41525_2025_536_MOESM1_ESM.pdf
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage1
oaire.citation.titleNPJ Genomic Medicine
oaire.citation.volume11
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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