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

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
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
1868-7075
1-18
Eggermann, Thomas
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Perez de Nanclares, Guiomar
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Maher, Eamonn R.
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Temple, I. Karen
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Tümer, Zeynep
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Monk, David
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Mackay, Deborah J. G.
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Grønskov, Karen
42b6747d-9009-499a-a70e-121137dbc83e
Riccio, Andrea
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Linglart, Agnès
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Netchine, Irène
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Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Perez de Nanclares, Guiomar
f156020c-c7bc-4445-b489-5f5348f7a9a8
Maher, Eamonn R.
577b8856-f8a8-49c2-9484-288d9f964aed
Temple, I. Karen
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Tümer, Zeynep
75c1d336-a336-4ceb-a19a-e20e1eeae033
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Mackay, Deborah J. G.
588a653e-9785-4a00-be71-4e547850ee4a
Grønskov, Karen
42b6747d-9009-499a-a70e-121137dbc83e
Riccio, Andrea
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Linglart, Agnès
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Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078

Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès and Netchine, Irène (2015) Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clinical Epigenetics, 7 (123), 1-18. (doi:10.1186/s13148-015-0143-8). (PMID:26583054)

Record type: Article

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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Accepted/In Press date: 29 September 2015
Published date: 14 November 2015
Keywords: imprinting disorders, imprinted genes, epimutation, uniparental disomy
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 384442
URI: http://eprints.soton.ac.uk/id/eprint/384442
ISSN: 1868-7075
PURE UUID: f23afa1b-76c4-4c3f-85b9-03c42992e12f
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781
ORCID for Deborah J. G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 16 Dec 2015 12:51
Last modified: 15 Mar 2024 03:01

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Contributors

Author: Thomas Eggermann
Author: Guiomar Perez de Nanclares
Author: Eamonn R. Maher
Author: I. Karen Temple ORCID iD
Author: Zeynep Tümer
Author: David Monk
Author: Karen Grønskov
Author: Andrea Riccio
Author: Agnès Linglart
Author: Irène Netchine

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