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

UBR5 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.

Palavras-chave

Autism Spectrum UBR5 Neurodevelopmental Disorders Ubiquitination Intellectual Disability Perturbações do Desenvolvimento Infantil e Saúde Mental

URI

http://hdl.handle.net/10400.18/10782

Citação

NPJ Genom Med. 2025 Nov 29;11(1):1. doi: 10.1038/s41525-025-00536-x

Editora

Nature Research

DOI

10.1038/s41525-025-00536-x

Coleções

DPSPDNT - Artigos em revistas internacionais
INSA - Artigos em revistas internacionais

Licença CC

cclicense-by-nc-nd

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