Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Open accessAbstract
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism, intellectual disability and schizophrenia. Microdeletions at 15q13.3 have recently been shown to constitute a strong genetic risk factor for common idiopathic generalized epilepsy syndromes, implicating that other recurrent microdeletions may also be involved in epileptogenesis. This study aimed to investigate the impact of five microdeletions at the genomic hotspot regions 1q21.1, 15q11.2, 16p11.2, 16p13.11 and 22q11.2 on the genetic risk to common idiopathic generalized epilepsy syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction and their breakpoints refined by array comparative genomic hybridization. In total, 22 patients with idiopathic generalized epilepsy (1.8%) carried one of the five novel microdeletions compared with nine controls (0.3%) (odds ratio = 6.1; 95% confidence interval 2.8-13.2; chi(2) = 26.7; 1 degree of freedom; P = 2.4 x 10(-7)). Microdeletions were observed at 1q21.1 [Idiopathic generalized epilepsy (IGE)/control: 1/1], 15q11.2 (IGE/control: 12/6), 16p11.2 IGE/control: 1/0, 16p13.11 (IGE/control: 6/2) and 22q11.2 (IGE/control: 2/0). Significant associations with IGEs were found for the microdeletions at 15q11.2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with idiopathic generalized epilepsy in this cohort with known 15q13.3 microdeletions (IGE/control: 9/0), parental transmission could be examined in 14 families. While 10 microdeletions were inherited (seven maternal and three paternal transmissions), four microdeletions occurred de novo at 15q13.3 (n = 1), 16p13.11 (n = 2) and 22q11.2 (n = 1). Eight of the transmitting parents were clinically unaffected, suggesting that the microdeletion itself is not sufficient to cause the epilepsy phenotype. Although the microdeletions investigated are individually rare (<1%) in patients with idiopathic generalized epilepsy, they collectively seem to account for a significant fraction of the genetic variance in common idiopathic generalized epilepsy syndromes. The present results indicate an involvement of microdeletions at 15q11.2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders.
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About 0.25% of controls (n=66,462) are found with the 15q11.2 BP1-BP2 microdeletion.
“a review of reported data from control cohorts (n = 66,462 subjects) summarized to date show that about 0.25% of controls are found with the 15q11.2 BP1–BP2 microdeletion [18,27,28,29,30,31].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [29]
The 'Detection of microdeletions in patients with IGE and controls' section reports 15q11.2 microdeletions in six of 3,022 controls (0.2%), supporting a similarly low control frequency. It does not report the cited review's pooled cohort of 66,462 controls or its 0.25% estimate. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe medical literature indicates that the 15q11.2 BP1-BP2 microdeletion may be a risk factor for epilepsy.
“The medical literature surrounding this microdeletion syndrome and seizures indicate that this chromosomal anomaly may be a risk factor for epilepsy [29,41,42,43].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [29]
The 15q11.2 deletion is associated with epilepsy (OR 4.9).
“epilepsy (OR 4.9)4”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [4]
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Percentages, sums and reported differences re-computed from the paper’s own numbers.
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Self-citation
- Authors
- de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., Obermeier, T., Kleefuss-Lie, A. A., Hallmann, K., Steffens, M., Gaus, V., Klein, K. M., Hamer, H. M., Rosenow, F., Brilstra, E. H., Kasteleijn-Nolst Trenite, D., Swinkels, M. E. M., Weber, Y. G., Unterberger, I., Zimprich, F., Urak, L., Feucht, M., Fuchs, K., Moller, R. S., Hjalgrim, H., De Jonghe, P., Suls, A., Ruckert, I.-M., Wichmann, H.-E., Franke, A., Schreiber, S., Nurnberg, P., Elger, C. E., Lerche, H., Stephani, U., Koeleman, B. P. C., Lindhout, D., Eichler, E. E., & Sander, T.
- Affiliations
- University of Cologne (DE)
- University of Washington (US)
- University Hospital Schleswig-Holstein (DE)
- University of Bonn (DE)
- Humboldt-Universität zu Berlin (DE)
- Philipps University of Marburg (DE)
- University Medical Center Utrecht (NL)
- Universität Ulm (DE)
- Innsbruck Medical University (AT)
- Medical University of Vienna (AT)
- University of Antwerp (BE)
- Helmholtz Munich (DE)
- Howard Hughes Medical Institute (US)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-10-20
- Volume
- 133
- Issue
- 1
- Pages
- 23-32
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC2801323
- OpenAlex
- W2154259233
- Cited by
- 445
- References
- 38
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 19 · 2023: 16 · 2022: 17 · 2021: 12 · 2020: 21 · 2019: 18 · 2018: 20 · 2017: 30 · 2016: 23 · 2015: 45 · 2014: 41 · 2013: 50 · 2012: 42
- FWCI
- 23.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Site cant be reached (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Danish Cancer Society Research Center
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung (01GS08120, 01GS08123)
- Fonds De La Recherche Scientifique - FNRS
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (917.66.315)
- Exzellenzclusters Entzündungsforschung
- Vlaamse regering
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043376, HD043569, K12HD043376, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- idiopathic generalized epilepsy, 15q11.2, 1q21.1, 16p11.2, 22q11.2, genetic risk, structural variants, epileptogenesis, genetic susceptibility, single nucleotide polymorphism array
- MeSH terms
- Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Epilepsy, Generalized, Female, Humans, Male, Pedigree, Cohort Studies, Genetic Predisposition to Disease, Young Adult
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