Percorrer por data de Publicação, começado por "2025-11-29"
A mostrar 1 - 1 de 1
Resultados por página
Opções de ordenação
- UBR5 Loss-of-function Variants In Autism Spectrum Disorder And Intellectual Disability: Case Series And Review Of The LiteraturePublication . Reuter, Miriam S.; Salazar, Nelson Bautista; Howe, Jennifer L.; Hoang, Ny; Sarikaya, Ege; Selvanayagam, Thanuja; Mendes de Aquino, Marla; Vicente, Astrid M.; Oliveira, Guiomar; Freitag, Christine M.; Thiruvahindrapuram, Bhooma; Trost, Brett; Scherer, Stephen W.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.