Diagnosis and management of Silver–Russell syndrome: first international consensus statement

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Abstract

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However,

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Most cited references 108

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Effect of in utero and early-life conditions on adult health and disease.

Peter D. Gluckman, Mark Hanson, Cyrus Cooper … (2008)

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CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus.

A Hark, C Schoenherr, D J Katz … (2000)

The Insulin-like growth factor 2 (Igf2) and H19 genes are imprinted, resulting in silencing of the maternal and paternal alleles, respectively. This event is dependent upon an imprinted-control region two kilobases upstream of H19 (refs 1, 2). On the paternal chromosome this element is methylated and required for the silencing of H19 (refs 2-4). On the maternal chromosome the region is unmethylated and required for silencing of the Igf2 gene 90 kilobases upstream. We have proposed that the unmethylated imprinted-control region acts as a chromatin boundary that blocks the interaction of Igf2 with enhancers that lie 3' of H19 (refs 5, 6). This enhancer-blocking activity would then be lost when the region was methylated, thereby allowing expression of Igf2 paternally. Here we show, using transgenic mice and tissue culture, that the unmethylated imprinted-control regions from mouse and human H19 exhibit enhancer-blocking activity. Furthermore, we show that CTCF, a zinc finger protein implicated in vertebrate boundary function, binds to several sites in the unmethylated imprinted-control region that are essential for enhancer blocking. Consistent with our model, CTCF binding is abolished by DNA methylation. This is the first example, to our knowledge, of a regulated chromatin boundary in vertebrates.

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Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Franck Court, Chiharu Tayama, Valeria Romanelli … (2014)

Differential methylation between the two alleles of a gene has been observed in imprinted regions, where the methylation of one allele occurs on a parent-of-origin basis, the inactive X-chromosome in females, and at those loci whose methylation is driven by genetic variants. We have extensively characterized imprinted methylation in a substantial range of normal human tissues, reciprocal genome-wide uniparental disomies, and hydatidiform moles, using a combination of whole-genome bisulfite sequencing and high-density methylation microarrays. This approach allowed us to define methylation profiles at known imprinted domains at base-pair resolution, as well as to identify 21 novel loci harboring parent-of-origin methylation, 15 of which are restricted to the placenta. We observe that the extent of imprinted differentially methylated regions (DMRs) is extremely similar between tissues, with the exception of the placenta. This extra-embryonic tissue often adopts a different methylation profile compared to somatic tissues. Further, we profiled all imprinted DMRs in sperm and embryonic stem cells derived from parthenogenetically activated oocytes, individual blastomeres, and blastocysts, in order to identify primary DMRs and reveal the extent of reprogramming during preimplantation development. Intriguingly, we find that in contrast to ubiquitous imprints, the majority of placenta-specific imprinted DMRs are unmethylated in sperm and all human embryonic stem cells. Therefore, placental-specific imprinting provides evidence for an inheritable epigenetic state that is independent of DNA methylation and the existence of a novel imprinting mechanism at these loci.

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Author and article information

Journal

Title: Nature Reviews Endocrinology

Abbreviated Title: Nat Rev Endocrinol

Publisher: Springer Nature

ISSN (Print): 1759-5029

ISSN (Electronic): 1759-5037

Publication date Created: September 2 2016

Publication date (Print): September 2 2016

Volume: 13

Issue: 2

Pages: 105-124

Article

DOI: 10.1038/nrendo.2016.138

PubMed ID: 27585961

SO-VID: f1b02c5e-0034-4b7b-9592-db161ce9b055

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Diagnosis and management of Silver–Russell syndrome: first international consensus statement

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UCL: UN SDG 03 Good Health and Well-Being

Most cited references 108

Effect of in utero and early-life conditions on adult health and disease.

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus.

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

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