PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
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Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy. PSMD11 loss-of-function variants caused early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity in 10 unrelated children. Our findings demonstrate that the cognitive impairment observed in these individuals could be recapitulated in Drosophila melanogaster with depletion of the PMSD11 ortholog Rpn6, which compromised reversal learning. Our investigations in subject samples further revealed that PSMD11 loss of function resulted in impaired 26S proteasome assembly and the acquisition of a persistent type I interferon (IFN) gene signature, mediated by the integrated stress response (ISR) protein kinase R (PKR). In summary, these data identify PSMD11 as an additional member of the growing family of genes associated with neurodevelopmental proteasomopathies and provide insights into proteasomal biology in human health.
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The inheritance pattern for these disorders can either be dominant or recessive.
“The inheritance pattern for these disorders can either be dominant, for the majority of variants in PSMD12 [Stankiewicz-Isidor syndrome, MIM: 617516]9,10, PSMC311 and PSMD1112, or recessive, as observed in cases involving PSMB1 [MIM: 620038]13 and PSMC3 [MIM: 619354]14 variants (Supplementary Fig. 1).”
From Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies (2025) · cites this paper as [12]
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Ünal, D., Melki, I., & Frémond, M. (2026) · Current Rheumatology Reports · doi:10.1007/s11926-026-01228-w · Cited by 2 · see citing works
Cell autonomous inflammation in VEXAS is mediated by cGAS-STINGPreprint
Magaziner, S. J., Collins, J. C., Miller, B., Zheng, P., Wang, A. K., Hadjadj, J., Balandrán, J. C., Sirenko, M., English, M., Bertlin, J., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.26.727520 · Cited by 1 · see citing works
Molecular mechanisms in rare proteasomopathies
Möller, S., Alvarez, F. L., Thiel, F. G., Wendlandt, M., & Krüger, E. (2026) · EULAR Rheumatology Open · doi:10.1016/j.ero.2025.12.005
Self-citationWang, Y., Li, Y., Zhu, L., Jiang, Z., Tang, Q., Liu, H., Hu, Y., Liu, Z., Li, Z., Zhou, X., et al. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1910440
- Authors
- Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., Toutain, B., Poirier, L., Cuinat, S., Kritzer, A., Crunk, A., diMonda, J., Vengoechea, J., Mercier, S., Kleinendorst, L., van Haelst, M. M., Zuurbier, L., Sulem, T., Katrínardóttir, H., Friðriksdóttir, R., Sulem, P., Stefansson, K., Jonsdottir, B., Zeidler, S., Sinnema, M., Stegmann, A. P. A., Naveh, N., Skraban, C. M., Gray, C., Murrell, J. R., Isikay, S., Pehlivan, D., Calame, D. G., Posey, J. E., Nizon, M., McWalter, K., Lupski, J. R., Isidor, B., Bolduc, F. V., Bézieau, S., Krüger, E., Küry, S., & Ebstein, F.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- University of Alberta (CA)
- Universitätsmedizin Greifswald (DE)
- Boston Children's Hospital (US)
- Emory University (US)
- Amsterdam University Medical Centers (NL)
- Amsterdam UMC Location University of Amsterdam (NL)
- deCODE Genetics (Iceland) (IS)
- Erasmus MC (NL)
- Maastricht University Medical Centre (NL)
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
- Baylor College of Medicine (US)
- Corresponding author
- Krüger, Elke
- Ebstein, Frédéric
- ORCID
- Deb, Wallid
- Rosenfelt, Cory
- Vignard, Virginie
- Möller, Sophie
- Wendlandt, Martin
- Cogné, Benjamin
- Besnard, Thomas
- Poirier, Léa
- Cuinat, Silvestre
- Kritzer, Amy
- diMonda, Janette
- Vengoechea, Jaime
- Mercier, Sandra
- Kleinendorst, Lotte
- Zuurbier, Linda
- Sulem, Patrick
- Zeidler, Shimriet
- Stegmann, Alexander P.A.
- Naveh, Natali
- Skraban, Cara M.
- Murrell, Jill R.
- Calame, Daniel G.
- Posey, Jennifer E.
- Nizon, Mathilde
- McWalter, Kirsty
- Lupski, James R.
- Isidor, Bertrand
- Bolduc, François V.
- Krüger, Elke
- Küry, Sébastien
- Ebstein, Frédéric
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2024-07
- Volume
- 111
- Issue
- 7
- Pages
- 1352-1369
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC11267520
- OpenAlex
- W4399566482
- Cited by
- 11
- References
- 76
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 2
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- HAL (submittedVersion, cc-by-nc-nd)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Digital Commons-TMC (Texas Medical Center) (submittedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion)
- Funders
- International Rett Syndrome Foundation
- AXA Research Fund
- Agence nationale de la recherche (ANR-22-RAR4-0001-01, ANR-21-CE17-0005)
- Région Pays de la Loire (TN_2021_AAP_UPS-NDDECIPHER_INSERM_154550)
- Muscular Dystrophy Association
- Rett Syndrome Research Trust
- National Institutes of Health
- Doris Duke Charitable Foundation
- European Cooperation in Science and Technology (CA20113)
- University Hospital Centre Nantes (PROG/09/72-03)
- Horizon 2020 (825575)
- Chung Hua University
- German Research Foundation (RTG PRO 2719)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- neurodevelopmental disorders, syndromic intellectual disability, neurodevelopmental delay, obesity, type I interferon response, integrated stress response, PKR, Drosophila melanogaster, reversal learning, loss-of-function mutations
- MeSH terms
- Loss of Function Mutation, Adolescent, Animals, Child, Child, Preschool, Drosophila melanogaster, Female, Humans, Interferons, Male, Intellectual Disability, Obesity, Phenotype, Drosophila Proteins, Proteasome Endopeptidase Complex, Neurodevelopmental Disorders
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