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Genomewide methylation analysis in Silver Russell syndrome patients

ABSTRACT: Genomewide methylation analysis in Silver Russell syndrome patients compared to healthy controls

ORGANISM(S): Homo sapiens

PROVIDER: GSE55491 | GEO | 2015/01/12

SECONDARY ACCESSION(S): PRJNA239769

REPOSITORIES: GEO

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Genomewide methylation analysis in Silver Russell syndrome patients

Project description:Genomewide methylation analysis in Silver Russell syndrome patients compared to healthy controls Bisulphite converted DNA from the 24 samples were hybridised to the Illumina Infinium 450k Human Methylation Beadchip

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Copy number variation analysis of a fetus with Silver-Russell syndrome in China

Project description:The Affymetrix CytoScan 750K Array chip contains 200000 SNP markers and 550000 CNV markers, distributed across the entire human genome at an average density of approximately 1 marker/4kb (not covering all loci of the entire chromosome genome). It is used to detect clinically significant chromosomal microdeletions/microduplications, chromosomal subtelomer deletion syndrome, and other abnormal chromosomal copy number variations (CNVs) as well as loss of heterozygosity (LOH). In a case study of Zhangzhou Municipal Hospital of Fujian Province, copy number variation detection was performed on a fetus with Silver-Russell syndrome using CytoScan 750K Array chip, and variations in the corresponding region were identified.

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Genome-wide methylation analysis of Silver-Russell patients

Project description:Genome-wide methylation analysis of Silver-Russell patients

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Transcription profiling twenty eight growth restricted patients (including twenty two with Silver-Russel syndrome) and their parents

Project description:We studied twenty-eight growth restricted patients (twenty-two with Silver-Russell syndrome, OMIM#180860) and their parents with the Affymetrix 250K Sty SNP microarray. All patients were molecularly undefined, and thus the aim was to look for copy number alterations that might contribute to the growth restriction. Aberrations found in parents were used to reduce the list of interesting variations to de novo variants.

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Copy number variation analysis of a fetus with Silver-Russell syndrome in China

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Project description:Illumina Infinium HumanMethylation450 assay was used to study genome-wide DNA methylation profiles of Silver-Russel sydrome (SRS) patients.

2017-12-21 | GSE104451 | GEO

The severity of 11p15 ICR1 hypomethylation in clonally derived skin fibroblasts from children with Silver-Russell syndrome is not predictive of the in-vitro phenotype

Project description:The in-vitro analysis of the hypomethylation of the imprinting control region 1 (ICR1) within the IGF2/H19 locus is challenged by the mosaic distribution of the epimutation in tissues from children with Silver-Russell syndrome (SRS). For excluding mosaicism, clonal cultures of skin fibroblasts from four children with SRS and three controls were analyzed. Cell proliferation, IGF-II secretion, and expression of IGF2 and H19 were measured. Microarray expression analysis was performed. Single cell expansion established severely ICR1 hypomethylated clones (SRShypo) and normomethylated clones (SRSnormo) from patients and controls (Cnormo). IGF2 expression was below the detection limit of the qRT-PCR assay, while H19 expression was detectable, without differences between fibroblast clones. Cell count-related IGF-II release was comparable in supernatants of SRShypo and Cnormo. Cell proliferation was diminished in SRShypo compared to Cnormo (p=.035). Microarray analysis revealed gene expression changes in SRS clones predicting a decrease of cell proliferation and a delay of mitosis. The analysis of severely ICR1 hypomethylated clonal fibroblasts did not reveal any functional differences towards the normomethylated clones with respect to IGF2 and H19 expression. Furthermore, a clear difference to the clones from healthy individuals was not detected except from a lower proliferation rate arisen from impaired cell cycle progression. 16 samples: 8 SRShypo, 4 SRSnormo, 4 Cnormo

2015-01-01 | E-GEOD-61120 | biostudies-arrayexpress

Homo sapiens

Project description:Genomewide methylation analysis in Silver Russell syndrome patients

| PRJNA239769 | ENA

Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation

2015-01-01 | GSE61120 | GEO

Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models

Project description:Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models

| PRJNA819477 | ENA

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