Defining the criteria for identifying constitutional epimutations

作者：Sloane Mathew A; Ward Robyn L; Hesson Luke B^*

来源：Clinical Epigenetics, 2016, 8(1): 39.

DOI：10.1186/s13148-016-0207-4

• Constitutional epimutation
• RB1
• Retinoblastoma
• Methylation

In the January 2016 issue of Clinical Epigenetics, Quinonez-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 Quinonez-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.

• 出版日期2016-4-18