CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
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Abstract
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1 +/− mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1 +/− mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1 +/ − mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1 +/ − brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course.
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Relevant effects could be concealed by the analysis of differentiated cells, compared to effects that take place mostly during early development, as demonstrated in heterozygous Cux+/− mice.
“relevant effects could be concealed by the analysis of differentiated cells, compared to effects that take place mostly during early development, as demonstrated in heterozygous Cux+/− mice (Oppermann et al. 2023)”
From Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly (2024) · cites this paper as Oppermann et al. 2023
The Results section (Analysis of Cux1 heterozygous mice; page unavailable) reports reduced CUX1 immunoreactivity at P10 but no significant difference at P30, supporting the possibility that a later-stage analysis could miss an earlier difference. It does not establish that relevant effects occur mostly during early development or that analysis of differentiated cells generally conceals them; western blots found reduced p200 CUX1 at all tested ages. (LLM, conf=0.83)
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- Authors
- Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A. T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L. M., Semina, E. V., Reuter, M. S., Scherer, S. W., Iascone, M., Weis, D., Fagerberg, C. R., Brasch-Andersen, C., Hansen, L. K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T. B., Pavlidou, D. C., Atallah, I., Vodopiutz, J., Janecke, A. R., Hsieh, T.-C., Lesmann, H., Klinkhammer, H., Krawitz, P. M., Lemke, J. R., Jamra, R. A., Nieto, M., Tümer, Z., & Platzer, K.
- Affiliations
- University Hospital Leipzig (DE)
- Consejo Superior de Investigaciones Científicas (ES)
- Washington University in St. Louis (US)
- Copenhagen University Hospital (DK)
- Centre Hospitalier Universitaire de Nantes (FR)
- Centre National de la Recherche Scientifique (FR)
- Legacy Emanuel Medical Center (US)
- Epilepsiezentrum Kleinwachau Gemeinnützige (DE)
- Centre for Human Genetics (GB)
- University of British Columbia (CA)
- Boston Children's Hospital (US)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Agostino Gemelli University Polyclinic (IT)
- University of Maryland, Baltimore (US)
- Royal Devon University Healthcare NHS Foundation Trust (GB)
- Children's Hospital of Wisconsin (US)
- University of Toronto (CA)
- Ospedale Papa Giovanni XXIII (IT)
- Johannes Kepler University of Linz (AT)
- Odense University Hospital (DK)
- Essen University Hospital (DE)
- UnityPoint Health (US)
- London North West Healthcare NHS Trust (GB)
- University of California, San Francisco (US)
- University of Nebraska Medical Center (US)
- University of Tübingen (DE)
- Centre Hospitalier Universitaire Vaudois (CH)
- Medical University of Vienna (AT)
- Innsbruck Medical University (AT)
- University of Bonn (DE)
- University of Copenhagen (DK)
- Corresponding author
- Oppermann, Henry
- Nieto, Marta
- Tümer, Zeynep
- ORCID
- Oppermann, Henry
- Marcos-Grañeda, Elia
- Weiss, Linnea A.
- Gurnett, Christina A.
- Jelsig, Anne Marie
- Isidor, Bertrand
- Mercier, Sandra
- Zacher, Pia
- Hashim, Mona
- Pagnamenta, Alistair T.
- Srivastava, Siddharth
- Maiwald, Robert
- Pergande, Matthias
- Milani, Donatella
- Rinelli, Martina
- Krey, Ilona
- Fontana, Paolo
- Lonardo, Fortunato
- Reis, Linda M.
- Semina, Elena V.
- Reuter, Miriam S.
- Scherer, Stephen W.
- Iascone, Maria
- Weis, Denisa
- Fagerberg, Christina R.
- Gardham, Alice
- Tenney, Jessica
- Rathore, Geetanjali
- Haack, Tobias B.
- Atallah, Isis
- Vodopiutz, Julia
- Janecke, Andreas R.
- Hsieh, Tzung-Chien
- Lesmann, Hellen
- Klinkhammer, Hannah
- Krawitz, Peter M.
- Lemke, Johannes R.
- Jamra, Rami Abou
- Nieto, Marta
- Tümer, Zeynep
- Platzer, Konrad
- Venue
- European Journal of Human Genetics
- Published
- 2023-08-30
- Volume
- 31
- Issue
- 11
- Pages
- 1251-1260
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC10620399
- OpenAlex
- W4386271728
- Cited by
- 18
- References
- 40
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 6 · 2023: 3
- FWCI
- 2.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Human Genetics (publishedVersion, cc-by)
- Research Square (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by-nc)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion, cc-by)
- SERVAL (Université de Lausanne) (publishedVersion, cc-by)
- IRIS (submittedVersion, cc-by)
- Qucosa (Saxon State and University Library Dresden) (submittedVersion, cc-by)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion, cc-by)
- HAL (submittedVersion, cc-by)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Funders
- Ministerio de Ciencia, Tecnología e Innovación Productiva (FPU18/06240, PID2020-112831GB-I00 AEI /10.13039/501100011033)
- U.S. Department of Health & Human Services | National Institutes of Health (P50 HD103525, EY025718)
- U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (K23NS119666)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- CUX1, neurodevelopmental disorders, intellectual disability, developmental delay, epilepsy susceptibility, speech delay, motor development, hypotonia, joint laxity, post-transcriptional regulation, genotype-phenotype spectrum
- MeSH terms
- Adult, Animals, Heterozygote, Humans, Intellectual Disability, Nuclear Proteins, Phenotype, Repressor Proteins, Seizures, Transcription Factors, Homeodomain Proteins, Mice, Neurodevelopmental Disorders
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