Genetic studies in intellectual disability and related disorders
Open accessAbstract
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been complicated for a long time by the extreme clinical and genetic heterogeneity. Recently, progress has been made using different next-generation sequencing approaches in combination with new functional readout systems. This approach has provided novel insights into the biological pathways underlying ID, improved the diagnostic process and offered new targets for therapy. In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. We also discuss the future directions of genetics research for ID and related neurodevelopmental disorders.
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Substantial overlap exists among genes mutated in ASD/SCZ and those associated with intellectual disability.
“Substantial overlap exists among genes mutated in ASD/SCZ and those associated with intellectual disability (ID)24, 25.”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [24]
Rare or de novo mutations represent the major source of large-effect risk factors for ASD and SCZ.
“This apparent evolutionary paradox is explained by recent observations that, although common variants play a role in the pathogenesis of ASD and SCZ21, 22, rare or de novo mutations represent the major source of large-effect risk factors23, 24.”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [24]
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- Authors
- Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A.
- Affiliations
- Radboud University Medical Center (NL)
- Radboud University Nijmegen (NL)
- Corresponding author
- Veltman, Joris A.
- Venue
- Nature Reviews Genetics
- Published
- 2015-10-27
- Volume
- 17
- Issue
- 1
- Pages
- 9-18
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1885358257
- Cited by
- 761
- References
- 122
- Citations by year
- 2026: 33 · 2025: 56 · 2024: 53 · 2023: 65 · 2022: 82 · 2021: 96 · 2020: 87 · 2019: 90 · 2018: 85 · 2017: 77 · 2016: 35 · 2015: 1 · 2014: 1
- FWCI
- 8.53
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- 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
- intellectual disability, de novo mutations, inherited mutations, phenotypic heterogeneity, disease causality, next-generation sequencing, neurodevelopmental disorders, genetic diagnosis, prognosis, therapeutic target
- MeSH terms
- Animals, DNA Mutational Analysis, Humans, Intellectual Disability, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Neurodevelopmental Disorders
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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