Cited by 395Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability researchGenomics and Rare Diseases

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Genetic and Epigenetic Networks in Intellectual Disabilities

van Bokhoven, Hans·2011·Annual Review of Genetics

DOI 10.1146/annurev-genet-110410-132512

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Abstract

Mutations in more than 450 different genes have been associated with intellectual disability (ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this number will increase three to fourfold in the next years due to the rapid implementation of innovative high-throughput sequencing technology in genetics labs. Numerous functional relationships have been identified between the products of individual ID genes, and common molecular and cellular pathways onto which these networks converge are beginning to emerge. Prominent examples are genes involved in synaptic plasticity, Ras and Rho GTPase signaling, and epigenetic genes that encode modifiers of the chromatin structure. It thus seems that there might be common pathological patterns in ID, despite its bewildering genetic heterogeneity. These common pathways provide attractive opportunities for knowledge-based therapeutic interventions.

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Authors: van Bokhoven, H.
Affiliations: Molecular Neurogenetics Unit, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands;
Venue: Annual Review of Genetics
Publisher: Annual Reviews
Published: 2011-12-15
Volume: 45
Issue: 1
Pages: 81-104
ISSN: 0066-4197 (ISSN-L)
1545-2948
DOI: 10.1146/annurev-genet-110410-132512
OpenAlex: W2160616996
Semantic Scholar: cebf2b88230f016c9d33fe39a870dc47be6bc913
Cited by: 382
References: 210
Citations by year: 2026: 12 · 2025: 12 · 2024: 15 · 2023: 17 · 2022: 19 · 2021: 34 · 2020: 30 · 2019: 20 · 2018: 28 · 2017: 29 · 2016: 33 · 2015: 36 · 2014: 44 · 2013: 33 · 2012: 18
FWCI: 3.12
Type: journal article
Language: en
Open access: closed
Locations: Annual Review of Genetics (publishedVersion)
PubMed (publishedVersion)
Radboud Repository (Radboud University) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: intellectual disability, cognitive disorders, autism spectrum disorder, gene networks, epigenetic networks, synaptic plasticity, Ras signaling, Rho GTPase signaling, chromatin structure, genetic heterogeneity, therapeutic target
MeSH terms: Autistic Disorder, Chromosome Aberrations, Chromosomes, Human, Cognition Disorders, Cytoskeletal Proteins, Humans, Intellectual Disability, Mutation, Spine, Synapses, Transcription, Genetic, Signal Transduction, Genetic Diseases, Inborn, Epigenesis, Genetic, Gene Regulatory Networks

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Genetic and Epigenetic Networks in Intellectual Disabilities

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