The University of Southampton
University of Southampton Institutional Repository

Recent Advances in imprinting disorders

Recent Advances in imprinting disorders
Recent Advances in imprinting disorders
Imprinting disorders (ImpDis) are a group of currently twelve congenital diseases with common underlying (epi)genetic aetiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ms are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counselling of the families and personalized therapeutic approaches
0009-9163
3-13
Soellner, Lukas
fbe27c7e-46ea-4533-95a9-44a8d6f8f89d
Begemann, Matthias
e6e9fa94-7d5c-4a79-86b4-6e17e685f433
Mackay, Deborah JG
588a653e-9785-4a00-be71-4e547850ee4a
Grønskov, Karen
42b6747d-9009-499a-a70e-121137dbc83e
Tümer, Zeynep
75c1d336-a336-4ceb-a19a-e20e1eeae033
Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Karen Temple, I.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Linglart, Agnès
05219f7f-aa9b-472f-b552-63d00b0b6d70
Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Soellner, Lukas
fbe27c7e-46ea-4533-95a9-44a8d6f8f89d
Begemann, Matthias
e6e9fa94-7d5c-4a79-86b4-6e17e685f433
Mackay, Deborah JG
588a653e-9785-4a00-be71-4e547850ee4a
Grønskov, Karen
42b6747d-9009-499a-a70e-121137dbc83e
Tümer, Zeynep
75c1d336-a336-4ceb-a19a-e20e1eeae033
Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Karen Temple, I.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Linglart, Agnès
05219f7f-aa9b-472f-b552-63d00b0b6d70
Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f

Soellner, Lukas, Begemann, Matthias, Mackay, Deborah JG, Grønskov, Karen, Tümer, Zeynep, Maher, Eamonn R, Karen Temple, I., Monk, David, Riccio, Andrea, Linglart, Agnès, Netchine, Irène and Eggermann, Thomas (2017) Recent Advances in imprinting disorders. Clinical Genetics, 91 (1), 3-13. (doi:10.1111/cge.12827).

Record type: Article

Abstract

Imprinting disorders (ImpDis) are a group of currently twelve congenital diseases with common underlying (epi)genetic aetiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ms are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counselling of the families and personalized therapeutic approaches

Text
pdf - Accepted Manuscript
Download (18kB)

More information

Accepted/In Press date: 27 June 2016
e-pub ahead of print date: 1 July 2016
Published date: January 2017
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 398589
URI: http://eprints.soton.ac.uk/id/eprint/398589
ISSN: 0009-9163
PURE UUID: 3e101c1e-9bcb-4325-a56a-69cdeb1fa3c5
ORCID for Deborah JG Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 29 Jul 2016 09:25
Last modified: 15 Mar 2024 05:46

Export record

Altmetrics

Contributors

Author: Lukas Soellner
Author: Matthias Begemann
Author: Karen Grønskov
Author: Zeynep Tümer
Author: Eamonn R Maher
Author: I. Karen Temple ORCID iD
Author: David Monk
Author: Andrea Riccio
Author: Agnès Linglart
Author: Irène Netchine
Author: Thomas Eggermann

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×