Defining the criteria for identifying constitutional epimutations

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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.

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Sloane, M. A., Ward, R. L., & Hesson, L. B. (2016). Defining the criteria for identifying constitutional epimutations. Clinical Epigenetics. Springer Verlag. https://doi.org/10.1186/s13148-016-0207-4

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