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Series GSE89594 Query DataSets for GSE89594
Status Public on Nov 06, 2018
Title Integrated network analysis reveals genotype-phenotype correlations in Williams syndrome
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Williams Syndrome (WS) is a rare neurodevelopmental disorder caused by heterozygous deletions in a chromosome 7q11.23 region typically encompassing 26-28 genes. WS patients exhibit a wide spectrum of symptoms, including cardiovascular disease, intellectual disability, visuospatial deficits and hypersociability a behavioral profile that contrasts with autism spectrum disorder (ASD). However, the relationship between neuropsychiatric phenotypes and dysregulated gene networks caused by the 7q11.23 deletion is unknown. We report results from a large-scale integrated transcriptome analysis of peripheral blood in clinically evaluated subjects with WS, ASD and matched controls. We identified significantly differential expressed genes in WS as compared with ASD or controls, even after removing genes spanning the 7q11.23 region. Using weighted gene co-expression network analysis (WGCNA), we found that three co-expression modules were upregulated in WS, and were significantly associated with the intermediate phenotypes such as anxiety and attention problems. Notably, these three co-expression modules were only composed of genes located outside of 7q11.23 critical region. One module was associated with immune systems and B cell proliferation. Its top hub gene, BCL11A, is implicated in ASD and chromatin modification. Another module was enriched with genes associated with astrocytes and oligodendrocytes, and the third module was associated with RNA processing and neurons. MicroRNA (miRNA) profiling revealed differentially expressed miRNAs whose targets were enriched in each co-expression module associated with WS. These results identify genes and potential driver miRNAs, located outside of 7q11.23 critical region, that are novel candidates for mediating the neuropsychiatric phenotypes in WS.
Overall design We profiled gene expression from 32 WS patients, 32 ASD patients and 30 controls using peripheral blood.
Contributor(s) Kimura R, Hagiwara M
Citation(s) 30362171, 31541176
Submission date Nov 07, 2016
Last update date Oct 08, 2019
Contact name Ryo Kimura
Organization name Kyoto University Graduate School of Medicine
Department Anatomy and Developmental Biology
Street address Yoshida-Konoe-cho
City Kyoto
ZIP/Postal code 606-8501
Country Japan
Platforms (1)
GPL16699 Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
Samples (94)
GSM2384988 Con_013_21_01
GSM2384989 Con_015_22_01
GSM2384990 Con_028_01_03
BioProject PRJNA352678

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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE89594_RAW.tar 286.1 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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