Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Perez, de Nanclares Guiomar
Temple, I Karen
Mackay, Deborah JG
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Eggermann, T., Perez, d. N. G., Maher, E., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J., et al. (2015). Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clinical Epigenetics, 7 (123)https://doi.org/10.1186/s13148-015-0143-8
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.
Imprinting disorders, Imprinted genes, Epimutation, Uniparental disomy
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).
External DOI: https://doi.org/10.1186/s13148-015-0143-8
This record's URL: https://www.repository.cam.ac.uk/handle/1810/252718
Attribution 2.0 UK: England & Wales
Licence URL: http://creativecommons.org/licenses/by/2.0/uk/
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