ArticleEuropean journal of human genetics : EJHG2010
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Central role of regular firing neurons of centrolateral amygdala in affective behaviors.iScience · 2025Article
- Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.Brain : a journal of neurology · 2024Article
- Mutation in the GRIA4 Gene Presenting as ESES: Expanding the Genetic Landscape of ESES.Annals of Indian Academy of Neurology · 2024Article
- Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners.International journal of molecular sciences · 2022Review
- Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.Pharmacological reviews · 2021Review
- Syndromes Hidden within the 16p11.2 Deletion Region.Molecular syndromology · 2018Article
- Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?Molecular cytogenetics · 2016Article
- Increased Dosage of High-Affinity Kainate Receptor Gene grik4 Alters Synaptic Transmission and Reproduces Autism Spectrum Disorders Features.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Double, Double Toil and Trouble.Molecular syndromology · 2015Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Molecular pharmacology · 2015Review
- Prenatal protein malnutrition decreases KCNJ3 and 2DG activity in rat prefrontal cortex.Neuroscience · 2015Article
- A candidate gene association study further corroborates involvement of contactin genes in autism.Molecular syndromology · 2014Article
- Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.BMC research notes · 2014Review
- Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.Communicative & integrative biology · 2014Review
- Late breaking chromosomes.Molecular syndromology · 2014Article
- Late breaking chromosomes.Molecular syndromology · 2013Article
- Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.Molecular syndromology · 2013Article
- 7q36 deletion and 9p22 duplication: effects of a double imbalance.Molecular cytogenetics · 2013Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To determine the phenotypic significance of copy number changes (CNCs) in the human genome, we performed genome-wide segmental aneuploidy profiling by BAC-based array-CGH of 278 unrelated patients with multiple congenital abnormalities and mental retardation (MCAMR) and in 48 unaffected family members. In 20 patients, we found de novo CNCs composed of multiple consecutive probes. Of the 125 probes making up these probably pathogenic CNCs, 14 were also found as single CNCs in other patients and 5 in healthy individuals. Thus, these CNCs are not by themselves pathogenic. Almost one out of five patients and almost one out of six healthy individuals in our study cohort carried a gain or a loss for any one of the recently discovered microdeletion/microduplication loci, whereas seven patients and one healthy individual showed losses or gains for at least two different loci. The pathogenic burden resulting from these CNCs may be limited as they were found with similar frequencies among patients and healthy individuals (P=0.165; Fischer's exact test), and several individuals showed CNCs at multiple loci. CNCs occurring specifically in our study cohort were enriched for components of the glutamate receptor family (GRIA2, GRIA4, GRIK2 and GRIK4) and genes encoding proteins involved in guiding cell localization during development (ATP1A2, GIRK3, GRIA2, KCNJ3, KCNJ10, KCNK17 and KCNK5). This indicates that disease cohort-specific compilations of CNCs may aid in identifying loci, genes and biological processes that contribute to the phenotype of patients.
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