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Background  The  in vitro  analysis of the hypomethylation of  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). To exclude mosaicism, clonal cultures of skin fibroblasts from four children with SRS and three controls were analyzed. Cell proliferation, IGF-II secretion, and  IGF2  and  H19  expression were measured, and a microarray expression analysis was performed.    Results  Single-cell expansion established severely  ICR1  hypomethylated clones (SRShypo) and normomethylated clones (SRSnormo) from the patients and controls (Cnormo).  IGF2  expression was below the detection limit of the quantitative real-time PCR (qRT-PCR) assay, whereas  H19  expression was detectable, without differences between fibroblast clones. Cell count-related IGF-II release was comparable in SRShypo and Cnormo supernatants. Cell proliferation was diminished in SRShypo compared to Cnormo ( p  = 0.035). The microarray analysis revealed gene expression changes in SRS clones, predicting a decrease in cell proliferation and a delay in mitosis.    Conclusions  The analysis of severely  ICR1  hypomethylated clonal fibroblasts did not reveal functional differences compared to normomethylated clones with respect to  IGF2  and  H19  expression. A difference compared to the clones from healthy individuals was present in the form of a lower proliferation rate, presumably due to impaired cell cycle progression.    Electronic supplementary material  The online version of this article (doi:10.1186/s13148-014-0038-0) contains supplementary material, which is available to authorized users.

clinical epigenetics

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