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Series GSE64380 Query DataSets for GSE64380
Status Public on Jun 03, 2015
Title Array-based DNA-methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype
Organism Homo sapiens
Experiment type Methylation profiling by array
Summary We analyzed the DNA methylation of peripheral blood samples from 81 individuals with intellectual disability (ID) and compared this methylation pattern to 19 normal controls using the HumanMethylation450 BeadChip and bisulfite pyrosequencing for validiation. We could not show a global methylation pattern that separates the patients from the normal controls. But we detected in an individual approach DNA methylation changes in the genes COLEC11, SHANK2, GLI2 and KCNQ2, known to be associated with ID, in at least one patient. DNA methylation analysis of imprinted genes revealed patients with aberrant methylation pattern at the imprinted genes PPIEL, IGF2R, MEG3 and MCTS2/HM13. Our results suggest that imprinting disorders are under-diagnosed in ID patients moreover point to DNA methylation changes as potential alternative means to deregulated genes involved in the pathogenesis of ID.
Overall design Bisulfite converted DNA of peripheral blood from 82 individuals with developmental delay/intellectual disability and 19 normal controls were hybridized to the Illumina Infinium HumaneMethylation450k BeadChip.
Contributor(s) Kolarova J, Ammerpohl O
Citation(s) 26003415
Submission date Dec 19, 2014
Last update date Mar 22, 2019
Contact name Ole Ammerpohl
Organization name UK Ulm
Street address Albert-Einstein-Allee 11
City Ulm
ZIP/Postal code 89081
Country Germany
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (100)
GSM1569876 DNA from ID individual 1
GSM1569877 DNA from ID individual 2
GSM1569878 DNA from ID individual 3
BioProject PRJNA270861

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE64380_Matrix_Signal_Intensity.txt.gz 422.0 Mb (ftp)(http) TXT
GSE64380_RAW.tar 183.1 Mb (http)(custom) TAR
Processed data included within Sample table

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