Abstract
Abstract 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.
Highlights
Imprinting disorders are exceptional within the group of monogenic syndromes
This review aims to provide an overview of the recent findings in 13 well-known imprinting disorders relating to clinical diagnosis, management and counseling
The list of possible maternal effect mutations leading to secondary epimutations in children is constantly increasing
Summary
Abstract: 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. Genomic imprinting has arisen in the evolution of higher mammals, and among different hypotheses about the evolutionary relevance of genomic imprinting, the “parental conflict hypothesis” has received greater attention [1] It explains the functional inequality of maternal and paternal imprinted genes with the different “interests” of the parental genomes: Whereas the paternal interest lies in “promoting offspring,” it is essential for the mother to conserve resources for herself and for further offspring. Many paternally expressed genes are growth-promoting, while maternally expressed genes are more growth-limiting Disturbances of these imprinting patterns often result in aberrant growth, and it is not astonishing that the majority of the so-called imprinting disorders are associated either with growth retardation or overgrowth (Table 1)
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