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Cited by 117Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

X-linked intellectual disability update 2017

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Neri, Giovanni, Schwartz, Charles E., Lubs, Herbert A., Stevenson, Roger E.·2018·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.38710PMC PMC6049830
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Abstract

The X‐chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X‐linked intellectual disability (XLID)‐associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of high‐throughput technologies. In the 10 years since the last update, the number of genes associated with XLID has increased by 96% from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high‐resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function.

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  • Genetic variation at many genomic loci substantially influences variation in intelligence and other cognitive capacities or behaviors.

    “The evidence is overwhelming that genetic variation at many genomic loci substantially influences variation in intelligence and other cognitive capacities or behaviors.”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [19]

    The Abstract identifies 141 X-linked genes associated with intellectual disability, supporting the point that variation at many loci can affect intellectual functioning. The paper does not establish the broader claim about variation in intelligence across the population or in other cognitive capacities and behaviors; its focus is X-linked intellectual disability. (LLM, conf=0.86)

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  • Mutations affecting the functioning of products produced by more than 100 genes on the X-chromosome alone have been associated with intellectual disability.

    “Mutations affecting the functioning of products produced by more than 100 genes on the X-chromosome alone have been associated with intellectual disability [19].”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [19]

  • Genetic variation affects variation in brain development and neural and cognitive functioning.

    “Another basic reality beyond dispute is that genetic variation affects variation in brain development and neural and cognitive functioning.”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [19]

  • A large body of experimental literature demonstrates causal connections between a variety of genetic variants of multiple types and intellectual disability.

    “A large body of experimental literature demonstrates causal connections between a variety of genetic variants of multiple types and intellectual disability.”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [19]

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Research works printed but not linked: 42

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Authors
Neri, G., Schwartz, C. E., Lubs, H. A., & Stevenson, R. E.
Affiliations
  • Università Cattolica del Sacro Cuore (IT)
  • Greenwood Genetic Center (US)
Corresponding author
Stevenson, Roger E.
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2018-04-25
Volume
176
Issue
6
Pages
1375-1388
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.38710
PMC
PMC6049830
OpenAlex
W2802631831
Cited by
117
References
7
Citations by year
2026: 6 · 2025: 6 · 2024: 13 · 2023: 12 · 2022: 15 · 2021: 20 · 2020: 25 · 2019: 16 · 2018: 4
FWCI
2.42
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institutes of Health (R01NS073854)
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
X-linked intellectual disability, X chromosome, gene duplication, genetic alterations, differential diagnosis, high-throughput genotyping, candidate gene sequencing, linkage analysis
MeSH terms
Cohesins, Genetic Testing, Humans, Intellectual Disability, Phosphoric Monoester Hydrolases, Cell Cycle Proteins, Myelin Proteolipid Protein, Gene Duplication, Tumor Suppressor Proteins, Antigens, Nuclear, Chromosomes, Human, X, Ubiquitin-Protein Ligases, Genes, X-Linked, Methyl-CpG-Binding Protein 2

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