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Cited by 200Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesDown syndrome and intellectual disability research

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

Ropers, H Hilger·2008·Current Opinion in Genetics & Development
DOI 10.1016/j.gde.2008.07.008
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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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Crossref · 10.1016/j.gde.2008.07.008

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Research works printed but not linked: 4

  1. Centers for Disease Control and Prevention (CDC), 2004, vol. 53
  2. Nazer, 2006, Increasing rates of Down syndrome among newborns in Chile from 1972 to 2005, Rev Med Chil, 134, 1549
  3. de Vries BB, Koolen A, Pfundt R, de Leeuw N, Geurts van Kessel A, Brunner HG, Smeets D, Veltman JA: abstract 64. 13th International Workshop on Fragile X and X-Linked Mental Retardation; Venice, October 2007.
  4. Boissel S, Molinari F, Borck G, Raas-Rothschild A, Reish O, Allon-Shalev S, Chaouch M, Munnich A, Colleaux L: abstract 66.13th International Workshop on Fragile X and X-Linked Mental Retardation; Venice, October 2007.

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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)
DOI
10.1016/j.gde.2008.07.008
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
Licence
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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