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Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11.

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

Author information

1
Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
2
Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands.
3
INSERM, UMR_S 938, Paris, France.
4
Sorbonne Universities, UPMC Univ Paris 06; UMR_S 938, Paris, France.
5
Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France.
6
Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute, Clayton, VIC, Australia.
7
Institut für Humangenetik, Universität Duisburg-Essen, Essen, Germany.
8
Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano IRCCS, Milano, Italy.
9
Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.
10
Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Barcelona, Spain.
11
Fetal Growth and Developmental Group, Genetics and Genomic Medicine Programme, UCL-ICH, London, UK.
12
West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
13
Center for Pediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany.
14
Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
15
DiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy.
16
Institute of Genetics and Biophysics - ABT, CNR, Napoli, Italy.
17
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto ON, Canada.
18
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
19
Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada.
20
Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
21
INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, CIBERER, ISCIII, Madrid, Spain.
22
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
23
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

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.

PMID:
27165005
PMCID:
PMC5027690
DOI:
10.1038/ejhg.2016.45
[Indexed for MEDLINE]
Free PMC Article

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