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Clin Epigenetics. 2015 Mar 14;7:23. doi: 10.1186/s13148-015-0050-z. eCollection 2015.

Congenital imprinting disorders: - a network to decipher their aetiology and to improve the diagnostic and clinical care.

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Department of Human Genetics, RWTH Aachen, Aachen, 52074 Germany ; Department of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany.
INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France ; UMR_S 938, CDR Saint-Antoine, UPMC Univ Paris 06, Sorbonne Universites, Paris, F-75012 France ; Pediatric Endocrinology, 3APHP, Armand Trousseau Hospital, Paris, 75012 France.
Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA UK.
Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600 Denmark.
Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Hospital Duran i Reynals, 08907 Barcelona, Spain.
DiSTABiF, Seconda Università degli Studi di Napoli, 81100 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, 94276 Paris France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, 94276 Paris, France.
Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, CB2 OXY UK.


Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing a wide ranging and collaborative network, brings together a wide variety of expertise and interests to engender new collaborations and initiatives.

KEYWORDS:; Epimutation; Imprinted genes; Imprinting disorders; Networking; Uniparental disomy

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