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

ABSTRACT: 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 c

ORGANISM(S): Homo sapiens

SUBMITTER: Doreen Heckmann 

PROVIDER: E-GEOD-61120 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress