Ontology highlight
ABSTRACT:
PROVIDER: PRJNA725029 | ENA |
REPOSITORIES: ENA
Similar Datasets
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:Mutations in KDM5C, (previously named SMCX or JARID1C) a gene that encodes a transcriptional regulator with histone-demethylase activity specific for di- and tri-methylated H3K4, are a comparatively frequent cause of non-syndromic X-linked mental retardation (NS-XLMR). Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated. Here we present the results of gene expression profiling performed on lymphoblastoid cell lines as well as blood from patients with mutations in KDM5C. Using whole genome expression arrays and QRT-PCR we identified several genes, including CMKOR1, JARID1B and KIAA0469 that were consistently deregulated in both tissues. These findings shed light on the patho-mechanisms underlying mental retardation and may have implications for future diagnostics of this heterogeneous disorder. We compared the mRNA expression of a patient lymphoblastoid cell line deficient for KDM5C with that of three controls to identify genes that are deregulated in the patient cell line.
2010-08-19 | E-GEOD-17369 | biostudies-arrayexpress
Project description:Mutations in KDM5C, (previously named SMCX or JARID1C) a gene that encodes a transcriptional regulator with histone-demethylase activity specific for di- and tri-methylated H3K4, are a comparatively frequent cause of non-syndromic X-linked mental retardation (NS-XLMR). Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated. Here we present the results of gene expression profiling performed on lymphoblastoid cell lines as well as blood from patients with mutations in KDM5C. Using whole genome expression arrays and QRT-PCR we identified several genes, including CMKOR1, JARID1B and KIAA0469 that were consistently deregulated in both tissues. These findings shed light on the patho-mechanisms underlying mental retardation and may have implications for future diagnostics of this heterogeneous disorder.
2009-07-29 | GSE17369 | GEO
Project description:Coffin–Lowry Syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes Rsk2, a serine/threonine kinase involved in spatial memory. We analyzed hippocampal gene expression profiles in Rsk2-KO mice to identify changes in molecular pathways. Total RNA was extracted from hippocampi from 6 KO and 6 WT (littermates) 2-month-old male mice. For each genotype, equivalent amounts of RNA from 2 mice were pooled and processed for hybridization to the genome wide oligonucleotide microarray (Murine 430A 2.0 Affymetrix, 22.000 probe sets). Thus, 3 independent pooled samples were hybridized for each genotype. We compared hippocampal gene expression profiles from rsk2-KO and normal littermate mice to identify changes in molecular pathways
2010-12-22 | E-GEOD-22137 | biostudies-arrayexpress
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:Coffin–Lowry Syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes Rsk2, a serine/threonine kinase involved in spatial memory. We analyzed hippocampal gene expression profiles in Rsk2-KO mice to identify changes in molecular pathways. Total RNA was extracted from hippocampi from 6 KO and 6 WT (littermates) 2-month-old male mice. For each genotype, equivalent amounts of RNA from 2 mice were pooled and processed for hybridization to the genome wide oligonucleotide microarray (Murine 430A 2.0 Affymetrix, 22.000 probe sets). Thus, 3 independent pooled samples were hybridized for each genotype.
2010-12-22 | GSE22137 | GEO
Project description:Mental retardation (MR) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. So far, point mutations and subtle deletions and insertions have been shown to represent only a proportion (<40%) of genetic causes underlying X-linked mental retardation (XLMR). We have screened a subset of 300 presumable X-linked families by X chromosome-specific array-CGH and identified 6 families with overlapping microduplications at Xp11.22 containing two candidate genes; both of which showed overexpression in the affected individuals. Array-CGH data revealed aberrant Cy5/Cy3 log2 ratios for different but overlapping sets of clones indicating varying sizes of these duplications in the different families. Keywords: comparative genomic hybridization
2008-02-20 | GSE9143 | GEO
Project description:This series represent the data set belonging to the publication by de Vries et al. Diagnostic genome profiling in mental retardation. American Journal of Human Genetics, vol 77: 606-616 (2005). In this study 100 patients with unexplained mental retardation were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BACs. Keywords: CGH
2005-09-16 | GSE3191 | GEO
Project description:The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy number variants. We studied 100 children with idiopathic mental retardation and their parents using the Affymetrix GeneChip® Mapping 100K Assay and found de novo duplications as small as 1.1 Mb in three cases, de novo deletions as small as 178 kb in eight cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy number variants as conventional cytogenetic analysis in people with mental retardation. Keywords: mental retardation, trio analysis, copy number variant, CNV, chromosome aberration, array CGH
2007-03-12 | GSE7226 | GEO