Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Clinical Epigenetics

Irène Netchine⁵  Agnès Linglart⁶  Andrea Riccio⁷  Karen Grønskov³  Deborah J. G. Mackay⁸  David Monk²  Zeynep Tümer³  I. Karen Temple⁸  Eamonn R. Maher⁹  Guiomar Perez de Nanclares⁴  Thomas Eggermann¹ 

[1] 3APHP, Pediatric Endocrinology, Armand Trousseau Hospital, Paris, France;Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d’Investigació Biomedica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain;Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark;Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba, Vitoria-Gasteiz, Spain;INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France;Institute of Genetics and Biophysics—ABT, CNR, Napoli, Italy;DiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy;Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK;Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK

关键词: Uniparental disomy;    Epimutation;    Imprinted genes;    Imprinting disorders;   

Others  :  1234339
DOI  :  10.1186/s13148-015-0143-8

 received in 2015-07-14, accepted in 2015-09-29,  发布年份 2015

【 摘 要 】

Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

【 授权许可】

   
2015 Eggermann et al.

【 图 表 】

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