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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.
1018-4813
1377-1387
Eggermann, Katja
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Bliek, Jet
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Brioude, Frédéric
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Algar, Elizabeth
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Buiting, Karin
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Russo, Silvia
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Tümer, Zeynep
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Monk, David
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Moore, Gudrun
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Antoniadi, Thalia
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Macdonald, Fiona
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Netchine, Irène
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Lombardi, Paolo
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Soellner, Lukas
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Begemann, Matthias
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Maher, Eamonn R.
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Mannens, Marcel
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Riccio, Andrea
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Weksberg, Rosanna
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Lapunzina, Pablo
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Grønskov, Karen
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Mackay, Deborah J.G.
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Eggermann, Thomas
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Eggermann, Katja
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Bliek, Jet
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Brioude, Frédéric
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Algar, Elizabeth
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Buiting, Karin
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Russo, Silvia
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Tümer, Zeynep
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Monk, David
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Moore, Gudrun
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Antoniadi, Thalia
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Macdonald, Fiona
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Netchine, Irène
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Lombardi, Paolo
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Soellner, Lukas
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Begemann, Matthias
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Prawitt, Dirk
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Maher, Eamonn R.
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Mannens, Marcel
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Riccio, Andrea
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Weksberg, Rosanna
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Lapunzina, Pablo
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Grønskov, Karen
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Mackay, Deborah J.G.
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Eggermann, Thomas
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Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R., Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah J.G. and Eggermann, Thomas (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 24 (10), 1377-1387. (doi:10.1038/ejhg.2016.45). (PMID:27165005)

Record type: Article

Abstract

Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.

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Accepted/In Press date: 29 March 2016
e-pub ahead of print date: 11 May 2016
Published date: October 2016
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 394346
URI: http://eprints.soton.ac.uk/id/eprint/394346
ISSN: 1018-4813
PURE UUID: d758fb75-48c3-4188-9c37-172b0fe9a58e
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 18 May 2016 10:17
Last modified: 17 Dec 2019 01:54

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Contributors

Author: Katja Eggermann
Author: Jet Bliek
Author: Frédéric Brioude
Author: Elizabeth Algar
Author: Karin Buiting
Author: Silvia Russo
Author: Zeynep Tümer
Author: David Monk
Author: Gudrun Moore
Author: Thalia Antoniadi
Author: Fiona Macdonald
Author: Irène Netchine
Author: Paolo Lombardi
Author: Lukas Soellner
Author: Matthias Begemann
Author: Dirk Prawitt
Author: Eamonn R. Maher
Author: Marcel Mannens
Author: Andrea Riccio
Author: Rosanna Weksberg
Author: Pablo Lapunzina
Author: Karen Grønskov
Author: Thomas Eggermann

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