Recent Advances in Imprinting Disorders

L. Soellner, M. Begemann, D. J.G. Mackay, K. Grønskov, Z. Tümer, E. R. Maher, I. K. Temple, D. Monk, A. Riccio, A. Linglart, I. Netchine, T. Eggermann*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counseling of the families and personalized therapeutic approaches.

Original languageEnglish
Pages (from-to)3-13
Number of pages11
JournalClinical genetics
Issue number1
Early online date1 Jul 2016
Publication statusPublished - 1 Jan 2017


  • epigenetic regulation
  • imprinting disorder
  • uniparental disomy


Dive into the research topics of 'Recent Advances in Imprinting Disorders'. Together they form a unique fingerprint.

Cite this