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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Open accessAbstract
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.
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“Several dozen human mutations in CaMKII have been identified, and their molecular characteristics support many of the biochemical behaviors of CaMKII described above.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
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“Many of the mutations decrease interactions between the kinase surface and the autoinhibitory segment previously shown to increase basal activity that is normally quite low.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
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“These in turn increase autophosphorylation of T286 (or T287 in some isoforms) that further increases constitutive activity (429, 430).”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
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“The mutations were found by exome sequencing of infants with mild to severe developmental and intellectual disabilities.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
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“However, none blocks generation of constitutive activity, comparable to the experimental Thr286A mutation, that would enable a test of Thr286 phosphorylation and constitutive CaMKII activity in human memory (428–430).”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
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Metadata
- Authors
- Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., Stessman, H. A. F., Pujol, A., Distel, B., Robak, L. A., Bernstein, J. A., Denommé-Pichon, A.-S., Lesca, G., Sellars, E. A., Berg, J., Carré, W., Busk, Ø. L., van Bon, B. W. M., Waugh, J. L., Deardorff, M., Hoganson, G. E., Bosanko, K. B., Johnson, D. S., Dabir, T., Holla, Ø. L., Sarkar, A., Tveten, K., de Bellescize, J., Braathen, G. J., Terhal, P. A., Grange, D. K., van Haeringen, A., Lam, C., Mirzaa, G., Burton, J., Bhoj, E. J., Douglas, J., Santani, A. B., Nesbitt, A. I., Helbig, K. L., Andrews, M. V., Begtrup, A., Tang, S., van Gassen, K. L. I., Juusola, J., Foss, K., Enns, G. M., Moog, U., Hinderhofer, K., Paramasivam, N., Lincoln, S., Kusako, B. H., Lindenbaum, P., Charpentier, E., Nowak, C. B., Cherot, E., Simonet, T., Ruivenkamp, C. A. L., Hahn, S., Brownstein, C. A., Xia, F., Schmitt, S., Deb, W., Bonneau, D., Nizon, M., Quinquis, D., Chelly, J., Rudolf, G., Sanlaville, D., Parent, P., Gilbert-Dussardier, B., Toutain, A., Sutton, V. R., Thies, J., Peart-Vissers, L. E. L. M., Boisseau, P., Vincent, M., Grabrucker, A. M., Dubourg, C., Tan, W.-H., Verbeek, N. E., Granzow, M., Santen, G. W. E., Shendure, J., Isidor, B., Pasquier, L., Redon, R., Yang, Y., State, M. W., Kleefstra, T., Cogné, B., Petrovski, S., Retterer, K., Eichler, E. E., Rosenfeld, J. A., Agrawal, P. B., Bézieau, S., Odent, S., Elgersma, Y., & Mercier, S.
- Affiliations
- Centre Hospitalier Universitaire de Nantes (FR)
- Erasmus MC (NL)
- Boston Children's Hospital (US)
- Telemark Hospital (NO)
- University of California, San Francisco (US)
- Creighton University (US)
- Institució Catalana de Recerca i Estudis Avançats (ES)
- Baylor College of Medicine (US)
- Stanford Medicine (US)
- Centre National de la Recherche Scientifique (FR)
- Arkansas Children's Hospital (US)
- University of Dundee (GB)
- Centre Hospitalier Universitaire de Rennes (FR)
- Radboud University Nijmegen (NL)
- Children's Hospital of Philadelphia (US)
- University of Illinois Chicago (US)
- Sheffield Children's Hospital (GB)
- Belfast Health and Social Care Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Hospices Civils de Lyon (FR)
- University Medical Center Utrecht (NL)
- Washington University in St. Louis (US)
- Leiden University Medical Center (NL)
- Seattle Children's Hospital (US)
- Ambry Genetics (United States) (US)
- Seattle Children's Research Institute (US)
- Heidelberg University (DE)
- German Cancer Research Center (DE)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- Baylor Genetics (US)
- University of Limerick (IE)
- Howard Hughes Medical Institute (US)
- The Royal Melbourne Hospital (AU)
- Corresponding author
- Küry, Sébastien
- Elgersma, Ype
- ORCID
- Küry, Sébastien
- van Woerden, Geeske M.
- Besnard, Thomas
- Latypova, Xénia
- Towne, Meghan C.
- Cho, Megan T.
- Prescott, Trine E.
- Sanders, Stephan
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A.
- Bernstein, Jonathan A.
- Lesca, Gaëtan
- Sellars, Elizabeth A.
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L.
- Deardorff, Matthew
- Johnson, Diana S.
- Holla, Øystein Lunde
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A.
- Grange, Dorothy K.
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Bhoj, Elizabeth J.
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lindenbaum, Pierre
- Ruivenkamp, Claudia A.L.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Tan, Wen-Hann
- Santen, Gijs W.E.
- Shendure, Jay
- Isidor, Bertrand
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Petrovski, Slavé
- Retterer, Kyle
- Eichler, Evan E.
- Rosenfeld, Jill A.
- Agrawal, Pankaj B.
- Odent, Sylvie
- Elgersma, Ype
- Mercier, Sandra
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-11
- Volume
- 101
- Issue
- 5
- Pages
- 768-788
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5673671
- OpenAlex
- W2766852890
- Cited by
- 185
- References
- 78
- Citations by year
- 2026: 15 · 2025: 22 · 2024: 25 · 2023: 18 · 2022: 29 · 2021: 29 · 2020: 21 · 2019: 15 · 2018: 11
- FWCI
- 8.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- HAL (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Funders
- National Institute of Mental Health (R01MH101221)
- National Institute of Neurological Disorders and Stroke (K08NS092898)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR068429)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077671)
- 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
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- CAMK2A, CAMK2B, calcium/calmodulin-dependent protein kinase II, de novo mutations, intellectual disability, autophosphorylation, neuronal migration, brain development, glutamatergic signaling, synaptic plasticity, rare variants
- MeSH terms
- Animals, Brain, Cell Line, Female, Humans, Male, Intellectual Disability, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Glutamic Acid, Mice, Calcium-Calmodulin-Dependent Protein Kinase Type 2, HEK293 Cells, Exome
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