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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Open accessAbstract
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features. We observed reduced PSMD12 levels and an accumulation of ubiquitinated proteins without any impairment of proteasome catalytic activity. Our PSMD12 loss-of-function zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules, and abnormal craniofacial morphology. Our data support the biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular; they enable the definition of a neurodevelopmental disorder due to PSMD12 variants, expanding the phenotypic spectrum of UPS-dependent disorders.
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“These variants affect the protein levels of proteasome subunits, or decreases their incorporation into 20S and 26S proteasome and also the assembly of 20S and 26S proteasome [18–20, 22, 23].”
From PSMC5 insufficiency and P320R mutation impair proteasome function (2024) · cites this paper as [22]
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“Furthermore, mutations in genes encoding proteasome subunits result in neurodevelopmental disorders, as exemplified by variants of genes encoding the 20S CP subunit PSMB1 (β1) [18] and the 19S RP subunits PSMC3 [19, 20] and PSMD12 [21–23].”
From PSMC5 insufficiency and P320R mutation impair proteasome function (2024) · cites this paper as [22]
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“Previous published work has shown that nonsense or missense variants of proteasome subunits PSMB1 [18], PSMC3 [19, 20], and PSMD12 [22, 23] are associated with neurodevelopmental disorders.”
From PSMC5 insufficiency and P320R mutation impair proteasome function (2024) · cites this paper as [22]
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Metadata
- Authors
- Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., Latypova, X., Khan, K., Pacault, M., Sacharow, S., Glaser, K., Bieth, E., Perrin-Sabourin, L., Jacquemont, M.-L., Cho, M. T., Roeder, E., Denommé-Pichon, A.-S., Monaghan, K. G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C. A., Patel, A., Smith, J. L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K. M., Gibson, J. B., Cogné, B., Lupski, J. R., Stessman, H. A. F., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J. A., Kloetzel, P.-M., Golzio, C., Bézieau, S., Stankiewicz, P., & Isidor, B.
- Affiliations
- Centre Hospitalier Universitaire de Nantes (FR)
- Charité – Universitätsmedizin Berlin (DE)
- Duke Medical Center (US)
- Warsaw University of Technology (PL)
- Boston Children's Hospital (US)
- Baylor College of Medicine (US)
- University of California, San Francisco (US)
- University of Miami (US)
- Centre Hospitalier Universitaire de La Réunion (RE)
- Inserm (FR)
- Centre National de la Recherche Scientifique (FR)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Université de Tours (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Hôpital Necker-Enfants Malades (FR)
- Pontificia Universidad Javeriana (CO)
- University of Washington (US)
- Howard Hughes Medical Institute (US)
- Duke University (US)
- Corresponding author
- Stankiewicz, Paweł
- Isidor, Bertrand
- ORCID
- Küry, Sébastien
- Besnard, Thomas
- Ebstein, Frédéric
- Khan, Tahir N.
- Gambin, Tomasz
- Bacino, Carlos A.
- Sanders, Stephan J.
- Lehmann, Andrea
- Latypova, Xénia
- Khan, Kamal
- Pacault, Mathilde
- Sacharow, Stephanie
- Jacquemont, Marie-Line
- Cho, Megan T.
- Roeder, Elizabeth
- Monaghan, Kristin G.
- Yuan, Bo
- Xia, Fan
- Simon, Sylvain
- Bonneau, Dominique
- Odent, Sylvie
- Toutain, Annick
- Pasquier, Laurent
- Shaw, Chad A.
- Patel, Ankita
- Smith, Janice L.
- Bi, Weimin
- Schmitt, Sébastien
- Deb, Wallid
- Nizon, Mathilde
- Mercier, Sandra
- Vincent, Marie
- Rooryck, Caroline
- Malan, Valérie
- Briceño, Ignacio
- Gómez, Alberto
- Nugent, Kimberly M.
- Cogné, Benjamin
- Lupski, James R.
- Stessman, Holly A.F.
- Eichler, Evan E.
- Retterer, Kyle
- Yang, Yaping
- Redon, Richard
- Katsanis, Nicholas
- Rosenfeld, Jill A.
- Golzio, Christelle
- Stankiewicz, Paweł
- Isidor, Bertrand
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-02
- Volume
- 100
- Issue
- 2
- Pages
- 352-363
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5294671
- OpenAlex
- W2580973364
- Cited by
- 110
- References
- 63
- Citations by year
- 2026: 9 · 2025: 3 · 2024: 18 · 2023: 14 · 2022: 12 · 2021: 16 · 2020: 10 · 2019: 10 · 2018: 12 · 2017: 6
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Update notices
- erratum (2017-04-06)
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Intellectum (Universidad de La Sabana) (submittedVersion, cc-by-nc-nd)
- Repositorio Institucional (Pontificia Universidad Javeriana) (submittedVersion, cc-by-nc)
- Funders
- French Ministry of Health
- Health Regional Agency from Poitou-Charentes (HUGODIMS, 2013, RC14_0107)
- US National Human Genome Research Institute (U54HG006542)
- National Heart, Lung, and Blood Institute
- Wellcome Trust
- 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
- ubiquitin-proteasome system, de novo mutations, intellectual disability, neurodevelopmental disorders, syndromic disorders, microcephaly, craniofacial anomalies, loss of function, ubiquitinated protein accumulation, neurogenesis
- MeSH terms
- Adolescent, Animals, Child, Child, Preschool, Disease Models, Animal, Female, Humans, Infant, Male, Intellectual Disability, Microcephaly, Zebrafish, Down-Regulation, Gene Deletion, Polymorphism, Single Nucleotide, Proteasome Endopeptidase Complex, DNA Copy Number Variations, Neurodevelopmental Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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