The DOI matches its Crossref record; 135 of the 136 references it cites were found in a registry or an index.
Genetics of intellectual disability
Abstract
Early onset intellectual disability (ID) is one of the largest unsolved problems of health care. Yet, it has received very little public attention in the past because many health care professionals do not perceive it as a health condition but as a social or educational issue. In severe ID, cytogenetically visible chromosomal abnormalities like trisomy 21 continue to be common, but since the introduction of array CGH, it is becoming clear that submicroscopic deletions and duplications are equally frequent, yet previously overlooked causes of ID. Until recently, the search for gene defects causing ID has focused on the X-chromosome. So far, >80 genes have been implicated in X-linked ID, largely owing to coordinated efforts of international consortia, and mutations in these genes account for >50% of the families with this condition. Autosomal forms, either due to dominant de novo mutations or to recessive gene defects, are presumably (far) more common than X-linked ones, and their molecular elucidation is a new challenge for research in this field. As recently shown, autosomal recessive ID (ARID) is extremely heterogeneous, and common forms are unlikely to exist. Ongoing studies into the function of ID genes are shedding more light on the pathogenesis of this disorder, and there is reason to believe that at least some genetic forms of ID may be amenable to drug treatment.
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“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [62]
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Somatic activation of AKT3 causes hemispheric developmental brain malformations
Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.010 · Cited by 478
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
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Genes that escape from X inactivation
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Metadata
- Authors
- Ropers, H. H.
- Affiliations
- Max Planck Society (DE)
- Corresponding author
- Ropers, H Hilger
- ORCID
- Ropers, H Hilger
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2008-06
- Volume
- 18
- Issue
- 3
- Pages
- 241-250
- ISSN
- 0959-437X (ISSN-L)
- OpenAlex
- W2040030455
- Cited by
- 199
- References
- 136
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 8 · 2023: 7 · 2022: 12 · 2021: 7 · 2020: 8 · 2019: 6 · 2018: 10 · 2017: 15 · 2016: 12 · 2015: 13 · 2014: 17 · 2013: 15 · 2012: 23
- FWCI
- 1.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Genetics & Development (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- intellectual disability, genetic causes of intellectual disability, X-linked intellectual disability, autosomal recessive intellectual disability, Down syndrome, array comparative genomic hybridization
- MeSH terms
- Animals, Chromosome Aberrations, Genes, Humans, Genetic Linkage, Intellectual Disability, X-Linked Intellectual Disability, Mental Retardation, X-Linked, Chromosomes, Human, X
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