TY - JOUR
T1 - EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: 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
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 J. G.
AU - Eggermann, Thomas
PY - 2016
Y1 - 2016
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
U2 - https://doi.org/10.1038/ejhg.2016.45
DO - https://doi.org/10.1038/ejhg.2016.45
M3 - Article
C2 - 27165005
SN - 1018-4813
VL - 24
SP - 1377
EP - 1387
JO - European journal of human genetics
JF - European journal of human genetics
IS - 10
ER -