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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4. HGG Adv. 2025. PMID: 39501558 Free PMC article.
It is caused by CUL3 (Cullin-3 ubiquitin ligase) haploinsufficiency. We collected clinical and molecular data from 26 individuals carrying pathogenic variants and variants of uncertain significance (VUS) in the CUL3 gene, including 20 previously unrepo …
It is caused by CUL3 (Cullin-3 ubiquitin ligase) haploinsufficiency. We collected clinical and molecular data from 26 i …
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B. de Masfrand S, et al. Eur J Med Genet. 2024 Jun;69:104932. doi: 10.1016/j.ejmg.2024.104932. Epub 2024 Mar 5. Eur J Med Genet. 2024. PMID: 38453051 Free article.
PURPOSE: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of complete penetrance. ...RESULTS: We identified 12 pa …
PURPOSE: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation …
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Ann Neurol. 2024 Sep 20:10.1002/ana.27077. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775 Free PMC article.
OBJECTIVE: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. ...Dysmorphic facial features were analyzed using GestaltMatcher …
OBJECTIVE: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmenta …
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Although KLHL20 regulates neurite outgrowth and synaptic development in animal models, a role in human neurodevelopment has not yet been described. We report on a neurodevelopmental disorder caused by de novo missense variants in KLHL20. ...CONCLUSION: Our findings …
Although KLHL20 regulates neurite outgrowth and synaptic development in animal models, a role in human neurodevelopment has not yet b …
Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder.
Loid P, Närhi A, Hussain S, Muurinen M, Mäkitie O. Loid P, et al. Horm Res Paediatr. 2025 Aug 5:1-7. doi: 10.1159/000547715. Online ahead of print. Horm Res Paediatr. 2025. PMID: 40763714
INTRODUCTION: Recent research has expanded the spectrum of genetic causes for growth failures. Patients with CUL3-related neurodevelopmental disorder (NDD) present with variable phenotypic manifestations, and growth retardation has been observed in some of these pat …
INTRODUCTION: Recent research has expanded the spectrum of genetic causes for growth failures. Patients with CUL3-related neurodev …
Current trends of high-risk gene Cul3 in neurodevelopmental disorders.
Lin P, Yang J, Wu S, Ye T, Zhuang W, Wang W, Tan T. Lin P, et al. Front Psychiatry. 2023 Jul 28;14:1215110. doi: 10.3389/fpsyt.2023.1215110. eCollection 2023. Front Psychiatry. 2023. PMID: 37575562 Free PMC article. Review.
Cul3 encodes Cullin-3, a core component of the ubiquitin E3 ligase that is involved in protein ubiquitination. Recent studies have identified Cul3 as a high-confidence risk gene in neurodevelopmental disorders (NDDs), especially autism spectrum …
Cul3 encodes Cullin-3, a core component of the ubiquitin E3 ligase that is involved in protein ubiquitination. Recent s …
Shared Genetic Links Between Sleep, Neurodevelopmental and Neuropsychiatric Conditions: A Genome-Wide and Pathway-Based Polygenic Score Analysis.
Fahey L, Lopez LM. Fahey L, et al. Genes Brain Behav. 2024 Dec;23(6):e70011. doi: 10.1111/gbb.70011. Genes Brain Behav. 2024. PMID: 39723615 Free PMC article.
While pathway-based polygenic score analysis identified the KEAP1-NRF2 (p = 1.29 10(-8)) and mRNA Splicing-Minor Pathways (p = 1.52 10(-8)) as enriched for genetic variation overlapping between chronotype and BP, the majority of tested pathways yielded null findings, suggesti …
While pathway-based polygenic score analysis identified the KEAP1-NRF2 (p = 1.29 10(-8)) and mRNA Splicing-Minor Pathways (p = 1.52 10(- …
The essential role of E3 ubiquitin ligases in the pathogenesis of neurodevelopmental and psychiatric disorders: Cul3, Cul4, Ube3a, and ZNRF1.
Ohno M, Wakatsuki S, Araki T. Ohno M, et al. Biochem Biophys Res Commun. 2025 May 12;763:151798. doi: 10.1016/j.bbrc.2025.151798. Epub 2025 Apr 10. Biochem Biophys Res Commun. 2025. PMID: 40233431 Review.
This paper reviews recent studies on the substrates of various E3 ubiquitin ligases including Cul3, Cul4, Ube3a, and ZNRF1, and explains how their dysfunction contributes to neuronal impairments and disease phenotypes. By deepening our understanding of these mechanisms, th …
This paper reviews recent studies on the substrates of various E3 ubiquitin ligases including Cul3, Cul4, Ube3a, and ZNRF1, and expla …
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. PMID: 37398376 Free PMC article. Updated. Preprint.
PURPOSE: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. ...Dysmorphic facial features were analyzed using GestaltMatcher. …
PURPOSE: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental …
CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.
Gofin Y, Dery T, Tenne T, Yaacobi RG, Block E, Kalis ML, Mor-Shaked H, Douiev-Charpak L, Birnbaum R, Shohat M, Markovich O, Kidron D, Sukenik-Halevy R. Gofin Y, et al. Prenat Diagn. 2026 Jun;46(7):1122-1129. doi: 10.1002/pd.70106. Epub 2026 Feb 27. Prenat Diagn. 2026. PMID: 41761011 Free PMC article.
OBJECTIVE: Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. ...CONCLUSION: This study expands on the known prenatal phenotype of CUL3-related neurodevelopmental disorde …
OBJECTIVE: Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described pr …
33 results