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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.


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Type

Article

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Authors

Eggermann, Thomas 
Perez de Nanclares, Guiomar 
Maher, Eamonn R 
Temple, I Karen 
Tümer, Zeynep 

Abstract

Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

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Keywords

Epimutation, Imprinted genes, Imprinting disorders, Uniparental disomy

Journal Title

Clin Epigenetics

Conference Name

Journal ISSN

1868-7075
1868-7083

Volume Title

7

Publisher

Springer Science and Business Media LLC
Sponsorship
All authors are members of the EUCID.net network, funded by COST (BM1208). TE is funded by the German Ministry of research and education (01GM1513B). GPdN is funded by I3SNS Program of the Spanish Ministry of Health (CP03/0064; SIVI 1395/09), Instituto de Salud Carlos III (PI13/00467) and Basque Department of Health (GV2014/111017).