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

TY - JOUR

T1 - EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders

T2 - Silver-Russell and Beckwith-Wiedemann syndrome

AU - Eggermann, Katja

AU - Bliek, Jet

AU - Brioude, Frédéric

AU - Algar, Elizabeth

AU - Buiting, Karin

AU - Russo, Silvia

AU - Tümer, Zeynep

AU - Monk, David

AU - Moore, Gudrun E

AU - Antoniadi, Thalia

AU - Macdonald, Fiona

AU - Netchine, Irène

AU - Lombardi, Paolo

AU - Soellner, Lukas

AU - Begemann, Matthias

AU - Prawitt, Dirk

AU - Maher, Eamonn R

AU - Mannens, Marcel

AU - Riccio, Andrea

AU - Weksberg, Rosanna

AU - Lapunzina, Pablo

AU - Grønskov, Karen

AU - Mackay, Deborah Jg

AU - Eggermann, Thomas

PY - 2016/10/1

Y1 - 2016/10/1

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1038/ejhg.2016.45

DO - 10.1038/ejhg.2016.45

M3 - Comment/debate

C2 - 27165005

SN - 1018-4813

VL - 24

SP - 1377

EP - 1387

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -