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

Katja Eggermann (1) , Jet Bliek (2) , Frédéric Brioude (3) , Elizabeth Algar (4) , Karin Buiting (5) , Silvia Russo (6) , Zeynep Tümer (7) , David Monk (8) , Gudrun Moore (9) , Thalia Antoniadi (10) , Fiona Macdonald (10) , Irène Netchine (3) , Paolo Lombardi (2) , Lukas Soellner (1) , Matthias Begemann (1) , Dirk Prawitt (11) , Marcel Mannens (2) , Andrea Riccio (12, 13) , Rosanna Weksberg (14, 15, 16, 17) , Pablo Lapunzina (18) , Karen Grønskov (7) , Thomas Eggermann (1)

1 Institut für Humangenetik
2 Department of Clinical Genetics
3 UMRS893 - Centre de Recherche Saint-Antoine
4 Genetics and Molecular Pathology Laboratory [Clayton]
5 Institute of Human Genetics - Institut für Humangenetik [Essen]
6 Laboratory of Cytogenetics and Molecular Genetics
7 Department of Clinical Genetics [Copenhagen]
8 Cancer Epigenetics and Biology Program-PEBC
9 Fetal Growth and Developmental Group
10 West Midlands Regional Genetics Laboratory and Clinical Genetics Unit
11 Center for Pediatrics and Adolescent Medicine [Mainz]
12 DISTABiF
13 Institute of Genetics and Biophysics, CNR, Naples
14 Departments of Paediatrics and Molecular Genetics [Toronto]
15 Division of Clinical and Metabolic Genetics [Toronto]
16 Program in genetics and genome biology
17 Institute of Medical Science, University of Toronto
18 INGEMM, Instituto de Genética Médica y Molecular, IDIPAZ-Hospital Universitario La Paz

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.

Domaines: Génétique humaine

Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, et al.. 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, 2016, ⟨10.1038/ejhg.2016.45⟩. ⟨hal-01319105⟩