Figure 2. . Paternal hypomethylation of the imprinting control region 1 (ICR1; also called H19/IGF2 IG-DMR, or intergenic differentially methylated region) results in loss of paternal IGF2 expression and gain of maternal H19 expression, which leads to a growth restriction phenotype [Gicquel et al 2005, Wakeling et al 2017].

Figure 2.

Paternal hypomethylation of the imprinting control region 1 (ICR1; also called H19/IGF2 IG-DMR, or intergenic differentially methylated region) results in loss of paternal IGF2 expression and gain of maternal H19 expression, which leads to a growth restriction phenotype [Gicquel et al 2005, Wakeling et al 2017]. Rarely, maternal duplication of the centromeric or both domains increases dosage of CDKN1C. Rare familial cases have been associated with a maternal CDKN1C gain-of-function pathogenic variant (green X) [Brioude et al 2013, Wakeling et al 2017] or a paternal IGF2 loss-of-function pathogenic variant (red X) [Begemann et al 2015, Wakeling et al 2017].

Adapted from Wakeling et al [2017]

From: Silver-Russell Syndrome

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