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Review
. 2021 Apr 17;12(4):585.
doi: 10.3390/genes12040585.

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Thomas Eggermann  1 , Justin H Davies  2 , Maithé Tauber  3 , Erica van den Akker  4 , Anita Hokken-Koelega  5 , Gudmundur Johansson  6 , Irène Netchine  7
Affiliations
Review

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Thomas Eggermann et al. Genes (Basel). .

Abstract

Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally expressed genes suppress it. The evolution of this correlation might be explained by the different interests of the maternal and paternal genomes, aiming for the conservation of maternal resources for multiple offspring versus extracting maximal maternal resources. Since not all imprinted genes in higher mammals show the same imprinting pattern in different species, the findings from animal models are not always transferable to human. Therefore, human imprinting disorders might serve as models to understand the complex regulation and interaction of imprinted loci. This knowledge is a prerequisite for the development of precise diagnostic tools and therapeutic strategies for patients affected by imprinting disorders. In this review we will specifically overview the current knowledge on imprinting disorders associated with growth retardation, and its increasing relevance in a personalised medicine direction and the need for a multidisciplinary therapeutic approach.

Keywords: Prader-Willi syndrome; Silver-Russell syndrome; differentially methylated regions; growth restriction; imprinted gene network; imprinting disorders; overgrowth; pseudoparahypoparathyreoidism; temple syndrome; transient neonatal diabetes.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The imprinting centre 1 (IC1) region in 11p15 as an example for imprinting regulation and its disturbances. (LOM, loss of methylation; GOM, gain of methylation).
Figure 2
Figure 2
Interaction of imprinted genes on chromosomes 11 and 14 and (putative) functional relation between Silver-Russell and Temple syndromes.
See this image and copyright information in PMC

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