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Recent Advances in Imprinting Disorders.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Soellner, L 
Begemann, M 
Mackay, DJG 
Grønskov, K 
Tümer, Z 

Abstract

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.

Description

Keywords

epigenetic regulation, imprinting disorder, uniparental disomy, DNA Copy Number Variations, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn, Genetic Loci, Genetic Testing, Genomic Imprinting, Humans, Mutation, Uniparental Disomy

Journal Title

Clin Genet

Conference Name

Journal ISSN

0009-9163
1399-0004

Volume Title

91

Publisher

Wiley
Sponsorship
COST (BM1208), Bundesministerium für Bildung und Forschung (Network ‘Imprinting Diseases’, 01GM1513B), German Ministry of research and education (01GM1513B)