ArticleEuropean journal of human genetics : EJHG2013
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- A quantitative transcriptome reference map of the normal human brain.Neurogenetics · 2014Pooled it
- Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 induced pluripotent stem cell-derived neural cells.Disease models & mechanisms · 2026Article
- Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells.bioRxiv : the preprint server for biology · 2026Article
- Whispers of Resilience: A phenomenological exploration of maternal journeys with children affected by Downs Syndrome in Quetta, Baluchistan.Pakistan journal of medical sciences · 2025Article
- Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.Journal of the American Heart Association · 2024Review
- Suppression of eEF2 phosphorylation alleviates synaptic failure and cognitive deficits in mouse models of Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- 15 Years of Inclusive Employment in a Down Syndrome Clinic.Work (Reading, Mass.) · 2024Article
- New Insights into the Education of Children with Congenital Heart Disease with and without Trisomy 21.Medicina (Kaunas, Lithuania) · 2023Article
- Timing of Alzheimer's Disease by Intellectual Disability Level in Down Syndrome.Journal of Alzheimer's disease : JAD · 2023Article
- A biophysiological framework exploring factors affecting speech and swallowing in clinical populations: focus on individuals with Down syndrome.Frontiers in psychology · 2023Article
- Article
- Importance of determining variations in the number of copies in newborns with autosomal aneuploidiesBiomedica : revista del Instituto Nacional de Salud · 2021Article
- A Critical Review of Spatial Abilities in Down and Williams Syndromes: Not All Space Is Created Equal.Frontiers in psychiatry · 2021Review
- Intellectual Abilities of Children with Narcolepsy.Journal of clinical medicine · 2020Article
- Path Integration and Cognitive Mapping Capacities in Down and Williams Syndromes.Frontiers in psychology · 2020Article
- Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.Clinical epigenetics · 2019Article
- Dementia in Down syndrome: unique insights for Alzheimer disease research.Nature reviews. Neurology · 2019Review
- Abnormal Microglia and Enhanced Inflammation-Related Gene Transcription in Mice with Conditional Deletion ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Association between long non-coding RNA and human rare diseases (Review).Biomedical reports · 2014Article
- Performance of Down syndrome subjects during a coincident timing task.International archives of medicine · 2013Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Trisomy 21 (T21), or Down syndrome (DS), is the most frequent and recognizable cause of intellectual disabilities. The level of disability, as evaluated by the intelligence quotient (IQ) test, varies considerably between patients independent of other factors. To determine the genetic or molecular basis of this difference, a high throughput transcriptomic analysis was performed on twenty T21 patients with high and low IQ, and 10 healthy controls using Digital Gene Expression. More than 90 millions of tags were sequenced in the three libraries. A total of 80 genes of potential interest were selected for the qPCR experiment validation, and three housekeeping genes were used for normalizing purposes. HLA DQA1 and HLA DRB1 were significantly downregulated among the patients with a low IQ, the values found in the healthy controls being intermediate between those noted in the IQ+ and IQ- T21 patients. Interestingly, the intergenic region between these genes contains a binding sequence for the CCCTC-binding factor, or CTCF, and cohesin (a multisubunit complex), both of which are essential for expression of HLA DQA1 and HLA DRB1 and numerous other genes. Our results might lead to the discovery of genes, or genetic markers, that are directly involved in several phenotypes of DS and, eventually, to the identification of potential targets for therapeutic interventions.
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Registered trials
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