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Epigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561. Epub 2018 Jan 25.

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

Author information

1
a Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute , Barcelona , Spain.
2
b European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus , Hinxton, Cambridge , UK.
3
c Human Genetics and Clinical Genetics, Leiden University Medical Center , Leiden , the Netherlands.
4
d Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano , Milan , Italy.
5
e Reproduction and Developmental Genetics , Centre National de la Recherche Scientifique , Clermont-Ferrand , France.
6
f Center for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Obere Zahlbacher , Mainz , Germany.
7
g Institute of Human Genetics, Technical University of Aachen , Aachen , Germany.
8
h Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen , Germany.
9
i Applied Human Molecular Genetics, Kennedy Centre, Copenhagen University Hospital, Rigshospitalet , Glostrup , Denmark.

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.

KEYWORDS:

Imprinting; imprinting disorders; methylation; nomenclature

PMID:
27911167
PMCID:
PMC5873357
[Available on 2019-01-25]
DOI:
10.1080/15592294.2016.1264561
[Indexed for MEDLINE]

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