CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
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CG9951's human homolog CDCC22 has been recently found to be a subunit of the retriever complex that acts in endosomal transport, and missense mutations in CDCC22 cause intellectual disability.
“These include CG9951, whose human homolog CDCC22 has been recently found to be a subunit of the retriever complex that acts in endosomal transport. Missense mutations in CDCC22 causing intellectual disability [81,82].”
From Functional unknomics: Systematic screening of conserved genes of unknown function (2023) · cites this paper as [82]
The paper reports one CCDC22 missense variant, c.49A>G/p.T17A, that segregated with intellectual disability in a family and was associated with reduced CCDC22 mRNA (main text, page not supplied). It calls CCDC22 a candidate gene and says its mutations are a suggested rare cause of X-linked intellectual disability; it does not establish that missense mutations generally cause it. (LLM, conf=0.87)
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- Authors
- Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., & Geschwind, D.
- Affiliations
- University of California, Los Angeles (US)
- South Australia Pathology (AU)
- King Edward Memorial Hospital (AU)
- The University of Queensland (AU)
- Hunter Genetics (AU)
- Corresponding author
- Geschwind, D
- Venue
- Molecular Psychiatry
- Published
- 2011-08-09
- Volume
- 17
- Issue
- 1
- Pages
- 4-7
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC3586744
- OpenAlex
- W2022168017
- Cited by
- 61
- References
- 22
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 6 · 2023: 5 · 2022: 3 · 2021: 4 · 2020: 4 · 2019: 5 · 2018: 5 · 2017: 2 · 2016: 1 · 2015: 6 · 2014: 4 · 2013: 5 · 2012: 1
- FWCI
- 2.05
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- NOVA (University of Newcastle Australia) (submittedVersion)
- Funders
- National Institute of Mental Health (R01MH081754)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- candidate genes, X chromosome, intellectual disability, copy number variation, X-linked disorders, chromatin remodeling, chromatin remodeling proteins, chromatin looping, chromatin organization, chromatin structure
- MeSH terms
- Carrier Proteins, DNA-Binding Proteins, Humans, Male, Intellectual Disability, Mutation, Nuclear Proteins, Phenotype, Proteins, RNA, Messenger, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Genetic Diseases, X-Linked, Chromosomes, Human, X, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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