ArticleAmerican journal of human genetics2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Erratum issuedOpen access · bronzeAbstract readCase Reports
In one paragraph
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 65 papers.
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65citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
What it found
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Who cites it
65 citing papers in PubMed, 108 citations in OpenAlex.
- USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Molecules and cells · 2026Article
- Lysine deficiency within a conserved lysine desert is critical for EEL-1/HUWE1 to support ubiquitin proteasome system function.PLoS genetics · 2026Article
- The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity.Autism research : official journal of the International Society for Autism Research · 2026Article
- Molecular mechanisms in rare proteasomopathies.EULAR rheumatology open · 2026Review
- Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing.Molecular medicine (Cambridge, Mass.) · 2026Article
- FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition.Human mutation · 2026Review
- Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish.Frontiers in molecular neuroscience · 2026Review
- Lysine deficiency within a conserved lysine desert is critical for EEL-1/HUWE1 to support ubiquitin proteasome system function.bioRxiv : the preprint server for biology · 2025Article
- Proteome Profiling of Rabies-Infected and Uninfected Dog Brain Tissues, Cerebrospinal Fluids and Serum Samples.Proteomes · 2025Article
- A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.PLoS genetics · 2025Article
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.Genes & diseases · 2024Review
- PSMC5 insufficiency and P320R mutation impair proteasome function.Human molecular genetics · 2024Article
- The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis.JCI insight · 2024Article
- PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.American journal of human genetics · 2024Article
- Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.American journal of human genetics · 2024Article
- Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- NSP6 inhibits the production of ACE2-containing exosomes to promote SARS-CoV-2 infectivity.mBio · 2024Article
- Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?Frontiers in cell and developmental biology · 2024Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
61 authors at 20 institutions in 5 countries.
Sébastien KüryService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Thomas BesnardService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Frédéric EbsteinInstitute of Biochemistry, Charité Universitätsmedizin Berlin, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.
Tahir N KhanCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Institute of Computer Science, Warsaw University of Technology, Warsaw 00-661, Poland; Department of Medical Genetics, Institute of Mother and Child, Warsaw 01-211, Poland.
Jessica DouglasDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
William J CraigenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Stephan J SandersDepartment of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Andrea LehmannInstitute of Biochemistry, Charité Universitätsmedizin Berlin, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.
Xénia LatypovaService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Kamal KhanCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA.
Mathilde PacaultService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Stephanie SacharowDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Kimberly GlaserDr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Eric BiethService de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, 31059 Toulouse, France.
Laurence Perrin-SabourinFédération de Génétique, Hôpital Robert Debré, Assistance Publique - Hôpitaux de Paris, 75935 Paris Cedex 19, France.
Marie-Line JacquemontGénétique Médicale, CHU de La Réunion, 97448 Saint Pierre, La Réunion, France.
Megan T ChoGeneDx, Gaithersburg, MD 20877, USA.
Elizabeth RoederDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.
Anne-Sophie Denommé-PichonDépartement de Biochimie et Génétique, CHU d'Angers, 49933 Angers Cedex 9, France.
Kristin G MonaghanGeneDx, Gaithersburg, MD 20877, USA.
Bo YuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Sylvain SimonCentre de Recherche en Cancérologie et Immunologie Nantes-Angers, INSERM, Université d'Angers et Université de Nantes, 44007 Nantes, France; LabEx "Immunotherapy, Graft, Oncology," 44093 Nantes, France; Department of Dermato-cancerology, CHU de Nantes, 44093 Nantes, France.
Dominique BonneauDépartement de Biochimie et Génétique, CHU d'Angers, 49933 Angers Cedex 9, France; INSERM UMR 1083, CNRS UMR 6214, 49933 Angers Cedex 9, France.
Philippe ParentGénétique Médicale, CHRU de Brest, 29609 Brest, France.
Brigitte Gilbert-DussardierService de Génétique, CHU de Poitiers, BP 577, 86021 Poitiers, France; Equipe d'Accueil 3808, Université de Poitiers, 86022 Poitiers Cedex, France.
Sylvie OdentService de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes 1, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.
Annick ToutainService de Génétique, CHU de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; INSERM UMR U930, Faculté de Médecine, Université François Rabelais, 37044 Tours, France.
Laurent PasquierService de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes 1, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.
Deborah BarbouthDr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Chad A ShawDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Ankita PatelDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Janice L SmithDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Weimin BiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Sébastien SchmittService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Wallid DebService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Mathilde NizonService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Sandra MercierService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Marie VincentService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Caroline RooryckService de Génétique Médicale, CHU de Bordeaux, 33076 Bordeaux, France.
Valérie MalanService d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Ignacio BriceñoInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, 110231 Bogotá, Colombia.
Alberto GómezInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, 110231 Bogotá, Colombia.
Kimberly M NugentDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.
James B GibsonClinical and Metabolic Genetics, 'Specially for Children, Austin, TX 78723, USA.
Benjamin CognéService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Holly A F StessmanDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Kyle RettererGeneDx, Gaithersburg, MD 20877, USA.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
Richard RedonINSERM, CNRS, l'Institut du Thorax, Université de Nantes, 44007 Nantes, France; L'Institut du Thorax, CHU de Nantes, 44093 Nantes, France.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA; Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Peter-Michael KloetzelInstitute of Biochemistry, Charité Universitätsmedizin Berlin, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.
Christelle GolzioCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA.
Stéphane BézieauService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Centre de Recherche en Cancérologie et Immunologie Nantes-Angers, INSERM, Université d'Angers et Université de Nantes, 44007 Nantes, France.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA; Institute of Mother and Child, Warsaw 01-211, Poland. Electronic address: pawels@bcm.edu.
Bertrand IsidorService de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: bertrand.isidor@chu-nantes.fr.
Baylor College of Medicine · USCentre Hospitalier Universitaire de Nantes · FRBaylor Genetics · USGénétique Médicale & Génomique Fonctionelle · FRCharité - Universitätsmedizin Berlin · DEAssistance Publique – Hôpitaux de Paris · FRBoston Children's Hospital · USDr. John T. Macdonald Foundation · USDuke University Hospital · USInserm · FRPontificia Universidad Javeriana · COCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Toulouse · FRCentre Hospitalier Universitaire de Tours · FRCentre National de la Recherche Scientifique · FRDuke Medical Center · USDuke University · USGénétique, Génomique Fonctionnelle et Biotechnologies · FRHoward Hughes Medical Institute · US
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MRenal Genomics CoreP30DK096493 · NIDDK · DUKE UNIVERSITY · PI PATEL, UPTAL D · 2012 to 2016
$5.9MNHGRI NIH HHS U54 HG006542NIDDK NIH HHS P30 DK096493Wellcome Trust
Abstract
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.
Indexed as
AdolescentAnimalsChildChild, PreschoolDisease Models, AnimalDNA Copy Number VariationsDown-RegulationFemaleGene DeletionHumansInfantIntellectual DisabilityMaleMicrocephalyNeurodevelopmental DisordersPolymorphism, Single Nucleotide26S proteasome non-ATPase regulatory subunit 13Proteasome Endopeptidase Complexintellectual disabilityproteasome 26SPSMD12RPN5syndromic neurodevelopmental disorderubiquitin
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