The genetic landscape of intellectual disability arising from chromosome X
Abstract
X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600-1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, approximately 11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.
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The dURV elevation was concentrated in X-linked intellectual disability genes (OR=1.88; 95% CI=1.34-2.64; P=9.5e-4) and developmental disorder genes (OR=1.67; 95% CI=1.31-2.13; P=1.6e-4).
“We did observe the dURV elevation to be concentrated in X-linked intellectual disability (XLID) genes41,42 (OR=1.88; 95% CI=1.34–2.64; P = 9.5 × 10−4) and in developmental disorder (DD) genes43 (OR=1.67; 95% CI=1.31-2.13; P = 1.6 × 10−4) (Online Methods).”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [42]
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References 105 · Cited by 207
- Authors
- Gécz, J., Shoubridge, C., & Corbett, M.
- Affiliations
- South Australia Pathology (AU)
- Corresponding author
- Gécz, Jozef
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2009-07
- Volume
- 25
- Issue
- 7
- Pages
- 308-316
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W1985966348
- Cited by
- 207
- References
- 105
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 3 · 2023: 5 · 2022: 6 · 2021: 9 · 2020: 11 · 2019: 10 · 2018: 12 · 2017: 11 · 2016: 13 · 2015: 13 · 2014: 16 · 2013: 18 · 2012: 21
- FWCI
- 2.36
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (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 › Genomic variations and chromosomal abnormalities
- Keywords
- X-linked intellectual disability, X chromosome, genetic heterogeneity, non-syndromic intellectual disability, gene identification
- MeSH terms
- Female, Humans, Male, Genetic Variation, Mental Retardation, X-Linked, X-Linked Intellectual Disability, Chromosomes, Human, X
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