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Series GSE74432 Query DataSets for GSE74432
Status Public on Dec 16, 2015
Title NSD1 Mutations Generate a Genome-Wide DNA Methylation Signature
Organism Homo sapiens
Experiment type Methylation profiling by genome tiling array
Summary Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1+/- specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1+/- specific signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing.
 
Overall design Bisulphite converted DNA from 122 samples were hybridized to the Illumina Infinium 450k Human Methylation Beadchip array.
 
Contributor(s) Choufani S, Turinsky AL, Weksberg R
Citation(s) 26690673
Submission date Oct 28, 2015
Last update date Mar 22, 2019
Contact name Rosanna Weksberg
Organization name The Hospital for Sick Children
Department Genetics and Genome Biology
Lab Weksberg Lab
Street address 555 University Ave.
City Toronto
State/province Ontario
ZIP/Postal code M5G 2L3
Country Canada
 
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (122)
GSM1920348 EP12w whole blood Control genomic DNA
GSM1920349 41373W whole blood Control genomic DNA
GSM1920350 EP13W whole blood Control genomic DNA
Relations
BioProject PRJNA300410

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
GSE74432_RAW.tar 1.1 Gb (http)(custom) TAR (of IDAT)
Processed data included within Sample table
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