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, Bhooma Thiruvahindrapuram, Brett Trost, Stephen W. Scherer · 2025
Read UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature by 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 (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12770425.txt.
Description
Reuter and co-authors add in 2025 three cases linking loss of function variants in the UBR5 gene to autism and intellectual disability. The gene makes an enzyme that tags proteins for disposal. Past reports tied one broken copy to autism, developmental delay, and wider neurodevelopmental features.
The three people were unrelated, each with a new variant not inherited from parents. A literature sweep gathered eleven such variants in total across past cases. Together the evidence supports the claim that halving this gene's function skews brain development. Autism and intellectual disability recur across the case set.
Catalog record
| CREATOR | 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 |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 28 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |