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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2. . Paternal hypomethylation of H19/IGF2 IG-DMR 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 H19/IGF2 IG-DMR 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].

This figure was adapted (legends not included) from Wakeling et al [2017], which was published under a Creative Commons Attribution 4.0 International License.

From: Silver-Russell Syndrome

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Saal HM, Harbison MD, Netchine I. Silver-Russell Syndrome. 2002 Nov 2 [Updated 2019 Oct 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 2. [Paternal hypomethylation of H19/IGF2 IG-DMR...].
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