Defining the criteria for identifying constitutional epimutations. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Sloane, Mathew; Ward, Robyn; Hesson, Luke
• Is Part Of: Clinical epigenetics. Volume 8:Issue 1(2016)
• Page Start: 1
• Page End: 2
• Publication Date: 2016-12
• Subjects: Constitutional epimutation -- RB1 -- Retinoblastoma -- Methylation; Epigenesis -- Periodicals; Genetic regulation -- Periodicals; Human cytogenetics -- Periodicals; Human molecular genetics -- Periodicals; Cancer -- Genetic aspects -- Periodicals; 611.01816
• DOI: 10.1186/s13148-016-0207-4
• Languages: English
• ISSNs: 1868-7075

Abstract

Abstract In the January 2016 issue ofClinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of theRB1 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.