title: Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.
abstract: 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 EUCID.net (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, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.
authors.affiliation: Department of Human Genetics, RWTH Aachen, Aachen, 52074 Germany ; Department of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.affiliation: 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.
authors.forename: Irène
authors.initials: I
authors.lastname: Netchine
authors.affiliation: Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA UK.
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
authors.affiliation: Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600 Denmark.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.affiliation: Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Hospital Duran i Reynals, 08907 Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Monk
authors.affiliation: Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA UK.
authors.forename: Deborah
authors.initials: D
authors.lastname: Mackay
authors.affiliation: Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600 Denmark.
authors.forename: Karin
authors.initials: K
authors.lastname: Grønskov
authors.affiliation: DiSTABiF, Seconda Università degli Studi di Napoli, 81100 Caserta, Italy ; Institute of Genetics and Biophysics-ABT, CNR, Napoli, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Riccio
authors.affiliation: 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.
authors.forename: Agnès
authors.initials: A
authors.lastname: Linglart
authors.affiliation: Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, CB2 OXY UK.
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
keywords: EUCID.net; Epimutation; Imprinted genes; Imprinting disorders; Networking; Uniparental disomy