ArticleEuropean journal of human genetics : EJHG2016
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 82 citations in OpenAlex.
- TSPY-like 2, Beyond the Histone Chaperone Role.Biomolecules · 2026Review
- Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.Nature communications · 2026Article
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- Rescue ofInternational journal of molecular sciences · 2025Article
- Induced Genetic Deletion of Cell Division Autoantigen 1 in Adulthood Attenuates Diabetes-Associated Renal Fibrosis.International journal of molecular sciences · 2025Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Advances in the etiology and neuroimaging of children with attention deficit hyperactivity disorder.Frontiers in pediatrics · 2024Review
- Natural Course ofChildren (Basel, Switzerland) · 2023Article
- AAV9-Tspyl2 gene therapy retards bleomycin-induced pulmonary fibrosis by modulating downstream TGF-β signaling in mice.Cell death & disease · 2023Article
- Molecular Insights into IQSEC2 Disease.International journal of molecular sciences · 2023Review
- Differences in Expression ofInternational journal of molecular sciences · 2022Article
- Using AI-Based Evolutionary Algorithms to Elucidate Adult Brain Tumor (Glioma) Etiology Associated with IDH1 for Therapeutic Target Identification.Current issues in molecular biology · 2022Article
- Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.Frontiers in genetics · 2021Article
- X-chromosome regulation and sex differences in brain anatomy.Neuroscience and biobehavioral reviews · 2021Review
- The Role of Cell Division Autoantigen 1 (CDA1) in Renal Fibrosis of Diabetic Nephropathy.BioMed research international · 2021Review
- Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.Molecular genetics & genomic medicine · 2020Article
- Presynaptic dysfunction in CASK-related neurodevelopmental disorders.Translational psychiatry · 2020Article
- Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.Neural development · 2020Review
- BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking.Small GTPases · 2020Review
- Solving for X: Evidence for sex-specific autism biomarkers across multiple transcriptomic studies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Copy number variations are a common cause of intellectual disability (ID). Determining the contribution of copy number variants (CNVs), particularly gains, to disease remains challenging. Here, we report four males with ID with sub-microscopic duplications at Xp11.2 and review the few cases with overlapping duplications reported to date. We established the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2 with one case also duplicating the known disease gene HUWE1. Patients with a duplication encompassing TSPYL2, KDM5C and IQSEC2 without gains of nearby SMC1A and HUWE1 genes have not been reported thus far. All cases presented with ID and significant deficits of speech development. Some patients also manifested behavioral disturbances such as hyperactivity and attention-deficit/hyperactivity disorder. Lymphoblastic cell lines from patients show markedly elevated levels of TSPYL2, KDM5C and SMC1A, transcripts consistent with the extent of their CNVs. The duplicated region in our patients contains several genes known to escape X-inactivation, including KDM5C, IQSEC2 and SMC1A. In silico analysis of expression data in selected gene expression omnibus series indicates that dosage of these genes, especially IQSEC2, is similar in males and females despite the fact they escape from X-inactivation in females. Taken together, the data suggest that gains in Xp11.22 including IQSEC2 cause ID and are associated with hyperactivity and attention-deficit/hyperactivity disorder, and are likely to be dosage-sensitive in males.
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