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Clin Epigenetics. 2015 Nov 14;7:123. doi: 10.1186/s13148-015-0143-8. eCollection 2015.

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

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Department of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany ; Sorbonne Universites, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France ; 3APHP, Pediatric Endocrinology, Armand Trousseau Hospital, Paris, France.
Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba, Vitoria-Gasteiz, Spain.
Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Southampton, UK ; Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK.
Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.
Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.
DiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy.
Institute of Genetics and Biophysics-ABT, CNR, Napoli, Italy.
Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.


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.


Epimutation; Imprinted genes; Imprinting disorders; Uniparental disomy

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