Ishida, M;
(2016)
New developments in Silver-Russell syndrome and implications for clinical practice.
Epigenomics
, 8
(4)
pp. 563-580.
10.2217/epi-2015-0010.
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Abstract
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver-Russell syndrome cases, while ˜50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ˜40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver-Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed.
| Type: | Article |
|---|---|
| Title: | New developments in Silver-Russell syndrome and implications for clinical practice |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.2217/epi-2015-0010 |
| Publisher version: | http://dx.doi.org/10.2217/epi-2015-0010 |
| Language: | English |
| Additional information: | Copyright © 2016 Future Medicine Ltd. The final published version of this article is available at http://dx.doi.org/10.2217/epi-2015-0010 |
| Keywords: | Silver–Russell syndrome, discordant twins, epigenetics, epigenomic editing, fetal growth, genomic imprinting, multilocus imprinting disturbance |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1478469 |
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