Evidence map›Paper›PMID 41318701›Full record

ArticleNPJ genomic medicine2025

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

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 and 3 more

Abstract read
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Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Miriam S ReuterThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Nelson Bautista SalazarThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Jennifer L HoweThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Ny HoangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Ege SarikayaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Thanuja SelvanayagamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Marla Mendes de AquinoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Astrid M VicenteDepartamento de Promoção da Saúde e Prevenção de Doenças Não-Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal.
Guiomar OliveiraChild Developmental Centre, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
Christine M FreitagDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Brett TrostThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Identifiers

PMID41318701
PMCPMC12770425

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.