title: Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
abstract: The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, comparisons between these studies are routinely hampered by the lack of consistency in reporting sites of methylation evaluated. To avoid confusion surrounding nomenclature, special care is needed to communicate results accurately, especially between scientists and other health care professionals. Within the European Network for Human Congenital Imprinting Disorders we have discussed these issues and designed a nomenclature for naming imprinted DMRs as well as for reporting methylation values. We apply these recommendations for imprinted DMRs that are commonly assayed in clinical laboratories and show how they support standardized database submission. The recommendations are in line with existing recommendations, most importantly the Human Genome Variation Society nomenclature, and should facilitate accurate reporting and data exchange among laboratories and thereby help to avoid future confusion.
authors.affiliation: a Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute , Barcelona , Spain.
authors.forename: David
authors.identifier: 0000-0001-8991-0497
authors.initials: D
authors.lastname: Monk
authors.affiliation: b European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus , Hinxton, Cambridge , UK.
authors.forename: Joannella
authors.initials: J
authors.lastname: Morales
authors.affiliation: c Human Genetics and Clinical Genetics, Leiden University Medical Center , Leiden , the Netherlands.
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.affiliation: d Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano , Milan , Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.affiliation: e Reproduction and Developmental Genetics , Centre National de la Recherche Scientifique , Clermont-Ferrand , France.
authors.forename: Franck
authors.initials: F
authors.lastname: Court
authors.affiliation: f Center for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Obere Zahlbacher , Mainz , Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Prawitt
authors.affiliation: g Institute of Human Genetics, Technical University of Aachen , Aachen , Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.affiliation: h Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen , Germany.
authors.forename: Jasmin
authors.initials: J
authors.lastname: Beygo
authors.affiliation: h Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen , Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.affiliation: i Applied Human Molecular Genetics, Kennedy Centre, Copenhagen University Hospital, Rigshospitalet , Glostrup , Denmark.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000818:Animals; D019175:DNA Methylation; D057890:Epigenomics / Q000592:standards*; D018392:Genomic Imprinting; D006801:Humans; D011110:Polymorphism, Genetic; D017410:Practice Guidelines as Topic; D009626:Terminology as Topic
keywords: Imprinting; imprinting disorders; methylation; nomenclature