P143: Methylation dysregulation in imprinting regions: Identifying outliers and clinical interpretation

Genetics in Medicine Open 2026 Open access

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Authors: Rhina Kaur, Tanner D. Jensen, Devon E. Bonner, Jonathan Adam Bernstein, Matthew Thomas Wheeler, Stephen B. Montgomery
DOI: 10.1016/j.gimo.2026.103637
Cited by: 0

Abstract

In autosomal inheritance, offspring receive two complete sets of chromosomes, one from each parent. However, in imprinted genes, which constitute approximately 1% of the human genome, only one allele is expressed while the other is epigenetically silenced. Silencing of an imprinted gene or its regulatory control region occurs primarily through DNA methylation, leaving one functional copy from a single parent. Disruptions and dysregulation in imprinting can lead to distinct congenital diseases called imprinting disorders.

Fields of Study & Subjects

Genetic Syndromes and Imprinting Epigenetics and DNA Methylation Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103637–103637
Publication date
1 January 2026
Language
EN