Ontology highlight
ABSTRACT:
PROVIDER: PRJNA482627 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Experiment Overall Design: Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD)
2008-10-18 | E-GEOD-6575 | biostudies-arrayexpress
Project description:Autism spectrum disorder (ASD) and mental retardation (MR) represent clinically distinct neurodevelopmental disorders with a complex genetic etiology. Using microarrays we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated ASD and MR patients; DNA sequencing of SHANK2 revealed additional variants including a de novo nonsense mutation and 7 rare inherited changes. Our findings further link common genes between ASD and intellectual disability.
2010-05-01 | GSE20533 | GEO
Project description:Epilepsy and mental retardation are known to be associated with pathogenic mutations of a broad range of genes that are expressed in the brain and play a role in neurodevelopment. Here, we report a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation p.Q19* in the BATF2 gene in the patients. The BATF2 transcription factor is predominantly expressed in macrophages and monocytes, and has been reported to modulate AP-1 transcription factor-mediated pro-inflammatory responses. Transcriptome analysis showed an altered base-level expression of interferon-stimulated genes in the patients’ blood, typical for type I interferonopathies. Peripheral blood mononuclear cells from all three patients demonstrated elevated responses to innate immune stimuli, which could be reproduced in CRISPR–Cas9-generated BATF2-/- human monocytic cell lines. BATF2 is, therefore, a novel disease-associated gene for severe epilepsy and mental retardation, related to dysregulation of immune responses, which underscores the relevance of neuroinflammation for epilepsy.
2023-01-25 | GSE220916 | GEO
Project description:Profiling the genomic profiles of mental retardation patients. 13 mental retardation patients were selected for detection of genomic aberrations.
2009-12-16 | GSE19457 | GEO
Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Keywords: autism analysis
2008-06-26 | GSE6575 | GEO
Project description:Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for common clinical features. Using a genotype-first approach, we characterized microdeletions at 20q13.33 in six patients referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. These deletions are relatively rare, with only 11 cases reported. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. Based on analysis of the smallest region of overlap (SRO) among cases reported here and in previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4, KCNQ2, and MYT1. Deletion of this region may play an important role in cognitive development. aCGH control vs. patient, total of 6 patients
2010-12-31 | E-GEOD-21536 | biostudies-arrayexpress
Project description:Non-syndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked ones, but in contrast to the latter, they are still largely unexplored. Here we report on a complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2, GLUR6), which co-segregates with moderate to severe non-syndromic autosomal recessive mental retardation in a large consanguineous Iranian family1. The predicted gene product lacks the first ligand-binding domain, the two adjacent transmembrane domains and the putative pore-forming loop of the GLUK6 protein, suggesting a complete loss of function, which is supported by electrophysiological data. This finding provides the first irrefutable proof that GLUK6 is indispensable for higher brain functions in man, and future studies of this and other ionotropic kainate receptors will shed more light on the pathophysiology of mental retardation. Keywords: array CGH
2007-07-04 | GSE7886 | GEO
Project description:TCF4 is an important neurodevelopmental transcription factor associated with schizophrenia and Pitt-Hopkins syndrome. In this study, we used genome-wide expression profiling to determine the effects of acute TCF4 knockdown on gene expression in SH-SY5Y neuroblastoma cells. Pathway and enrichment analysis on the differentially expressed genes in TCF4-knockdown cells identified an over-representation of genes involved in TGF-β signaling, epithelial-to-mesenchymal transition (EMT) and apoptosis. Among the most significantly differentially expressed genes were the EMT regulators SNAI2 and DEC1 and the proneural genes NEUROG2 and ASCL1. Altered expression of several mental retardation genes such as UBE3A (AS), ZEB2 (MWS) and MEF2C was also found in TCF4-depleted cells. These data suggest that TCF4 regulates a number of convergent signaling pathways involved in cell differentiation and survival in addition to a subset of clinically important mental retardation genes.
2013-08-20 | GSE48367 | GEO
Project description:Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for common clinical features. Using a genotype-first approach, we characterized microdeletions at 20q13.33 in six patients referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. These deletions are relatively rare, with only 11 cases reported. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. Based on analysis of the smallest region of overlap (SRO) among cases reported here and in previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4, KCNQ2, and MYT1. Deletion of this region may play an important role in cognitive development.
2010-12-31 | GSE21536 | GEO