Clinical spectrum and management of imprinting disorders

Miriam Elbracht*, Gerhard Binder, Olaf Hiort, Cordula Kiewert, Christian Kratz, Thomas Eggermann

*Corresponding author for this work


Imprinting disorders are exceptional within the group of monogenic syndromes. They are associated with molecular changes affecting imprinted regions and usually do not follow the rules of Mendelian inheritance. They account for a relevant proportion of congenital disorders, especially within the syndromal growth entities with endocrine, neurological, and skeletal characteristics. In patients with imprinting disorders and accelerated growth, significant tumor risks have to be considered. The number of known imprinting disorders increases with the identification of new regions in which parentally imprinted genes are located. Imprinting disorders are caused by genomic pathogenic variants affecting imprinted genes, as well as by aberrant imprinting marks (epimutations) in the patients themselves. Additionally, maternal effect mutations have recently been identified that trigger secondary epimutations in the offspring. These maternal effect mutations explain not only imprinting disorders in their children, but also recurrent reproductive failure in the families. This review aims to provide an overview of the recent findings in 13 well-known imprinting disorders relating to clinical diagnosis, management and counseling.

Original languageEnglish
JournalMedizinische Genetik
Issue number4
Pages (from-to)321-334
Number of pages14
Publication statusPublished - 01.12.2020

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


Dive into the research topics of 'Clinical spectrum and management of imprinting disorders'. Together they form a unique fingerprint.

Cite this