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<p><i>UBR5</i> 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 <i>UBR5</i>, 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 <i>UBR5</i> haploinsufficiency is associated with ASD and atypical neurodevelopmental trajectories, including developmental delay and intellectual disability.</p>

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UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月29日

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  • Miriam S. Reuter,
  • Nelson Bautista Salazar,
  • Jennifer L. Howe,
  • Ny Hoang,
  • Ege Sarikaya,
  • Thanuja Selvanayagam,
  • Marla Mendes de Aquino,
  • Astrid M. Vicente,
  • Guiomar Oliveira,
  • Christine M. Freitag,
  • Bhooma Thiruvahindrapuram,
  • Brett Trost,
  • Stephen W. Scherer

摘要

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.