PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

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 homeostasi...

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Published inAmerican journal of human genetics Vol. 111; no. 7; pp. 1352 - 1369
Main Authors Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Ebstein, Frédéric
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 11.07.2024
Elsevier
Subjects
Adolescent
Animals
Child
Child, Preschool
Drosophila melanogaster - genetics
Female
Humans
Intellectual Disability - genetics
Interferons - genetics
Interferons - metabolism
Loss of Function Mutation
Male
Neurodevelopmental Disorders - genetics
Obesity - genetics
Phenotype
Proteasome Endopeptidase Complex - genetics
Proteasome Endopeptidase Complex - metabolism
Online AccessGet full text
ISSN0002-9297
1537-6605
1537-6605
DOI10.1016/j.ajhg.2024.05.016

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Abstract 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. [Display omitted] Deb et al. have identified PSMD11, which encodes a proteasome subunit, as a causative factor for a neurodevelopmental disorder. Their investigations involving clinical phenotype analysis and proband-derived cell lines as well as animal and cellular models have established an association between PSMD11 variants and impaired learning abilities, obesity, and auto-inflammation.
AbstractList 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.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.
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. Deb et al. have identified PSMD11, which encodes a proteasome subunit, as a causative factor for a neurodevelopmental disorder. Their investigations involving clinical phenotype analysis and proband-derived cell lines as well as animal and cellular models have established an association between PSMD11 variants and impaired learning abilities, obesity, and auto-inflammation.
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. [Display omitted] Deb et al. have identified PSMD11, which encodes a proteasome subunit, as a causative factor for a neurodevelopmental disorder. Their investigations involving clinical phenotype analysis and proband-derived cell lines as well as animal and cellular models have established an association between PSMD11 variants and impaired learning abilities, obesity, and auto-inflammation.
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.
Author Cuinat, Silvestre
van Haelst, Mieke M.
Kritzer, Amy
Katrínardóttir, Hildigunnur
Sinnema, Margje
Küry, Sébastien
Crunk, Amy
Bolduc, François V.
Nizon, Mathilde
Jonsdottir, Berglind
Ruffier, Léa
Zeidler, Shimriet
Möller, Sophie
Isidor, Bertrand
Poirier, Léa
Naveh, Natali
Studencka-Turski, Maja
Vengoechea, Jaime
Lupski, James R.
Rosenfelt, Cory
Toutain, Bérénice
Murrell, Jill R.
Skraban, Cara M.
Bézieau, Stéphane
Calame, Daniel G.
Vignard, Virginie
Kleinendorst, Lotte
Ebstein, Frédéric
Mercier, Sandra
Stefansson, Kari
diMonda, Janette
Cogné, Benjamin
Friðriksdóttir, Rún
Sulem, Patrick
Posey, Jennifer E.
Papendorf, Jonas Johannes
Zuurbier, Linda
Stegmann, Alexander P.A.
McWalter, Kirsty
Besnard, Thomas
Gray, Christopher
Isikay, Sedat
Krüger, Elke
Deb, Wallid
Wendlandt, Martin
Sulem, Telma
Pehlivan, Davut
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/38866022$$D View this record in MEDLINE/PubMed
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CitedBy_id crossref_primary_10_1016_j_conb_2024_102934
crossref_primary_10_1038_s41584_024_01184_8
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ContentType Journal Article
Copyright 2024 American Society of Human Genetics
Copyright © 2024 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
2024 American Society of Human Genetics. 2024 American Society of Human Genetics
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SubjectTerms Adolescent
Animals
Child
Child, Preschool
Drosophila melanogaster - genetics
Female
Humans
Intellectual Disability - genetics
Interferons - genetics
Interferons - metabolism
Loss of Function Mutation
Male
Neurodevelopmental Disorders - genetics
Obesity - genetics
Phenotype
Proteasome Endopeptidase Complex - genetics
Proteasome Endopeptidase Complex - metabolism
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Title PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
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