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Series GSE46831 Query DataSets for GSE46831
Status Public on Jun 01, 2013
Title De novo mutations in the genome organizer CTCF cause Intellectual Disability (RNA-Seq)
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. Furthermore, a patient with a larger deletion including CTCF was identified. CTCF (CCCTC-binding factor) is one of the most important chromatin organizers in vertebrates and is involved in various chromatin regulation processes such as higher order of chromatin organization, enhancer function, and maintenance of three-dimensional chromatin structure. Transcriptome analyses in all three patients with point mutations revealed deregulation of genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition.
Overall design Comparison of lymphocyte gene expression between 3 de novo CTCF mutation patients and 8 controls (4 technical replicates each, no biological replicates).
Contributor(s) Zweier CA, Huiqing Zhou J
Citation(s) 23746550
Submission date May 10, 2013
Last update date Jun 14, 2022
Contact name Jo Huiqing Zhou
Organization name Radboud University
Street address Geert Grooteplein 26/18
City Nijmegen
ZIP/Postal code 6525GA
Country Netherlands
Platforms (1)
GPL13393 AB SOLiD 4 System (Homo sapiens)
Samples (11)
GSM1138974 P1 RNA-Seq
GSM1138975 P2 RNA-Seq
GSM1138976 P3 RNA-Seq
This SubSeries is part of SuperSeries:
GSE46833 De novo mutations in the genome organizer CTCF cause Intellectual Disability
SRA SRP022307
BioProject PRJNA202875

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Supplementary file Size Download File type/resource
GSE46831_gregor_et_al_2013_rnaseq_rpkm.txt.gz 619.8 Kb (ftp)(http) TXT
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