Defining the criteria for identifying constitutional epimutations

Sloane, Mathew A., Ward, Robyn L. and Hesson, Luke B. (2016) Defining the criteria for identifying constitutional epimutations. Clinical Epigenetics, 8 39: 1-2. doi:10.1186/s13148-016-0207-4


Author Sloane, Mathew A.
Ward, Robyn L.
Hesson, Luke B.
Title Defining the criteria for identifying constitutional epimutations
Journal name Clinical Epigenetics   Check publisher's open access policy
ISSN 1868-7083
Publication date 2016-04-18
Year available 2016
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1186/s13148-016-0207-4
Open Access Status DOI
Volume 8
Issue 39
Start page 1
End page 2
Total pages 2
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
In the January 2016 issue of Clinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of the RB1 gene as a cause of hereditary predisposition to retinoblastoma. The term constitutional epimutation describes an epigenetic aberration in normal tissues that predisposes to disease. The data presented by Quiñonez-Silva et al. are interesting, but further analysis is required to demonstrate a constitutional epimutation in this family. Here, we define the criteria and describe the experimental approach necessary to identify an epigenetic aberration as a constitutional epimutation.
Keyword Constitutional epimutation
RB1
Retinoblastoma
Methylation
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collections: HERDC Pre-Audit
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