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

Clinical Epigenetics
Thomas EggermannEamonn R Maher

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 ne...Continue Reading

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Sep 25, 2015·Nucleic Acids Research·Stéphanie Maupetit-MéhouasPhilippe Arnaud
Mar 26, 2016·Pharmacology & Therapeutics·Yingmei Zhang, Jun Ren
Jun 13, 2019·European Journal of Human Genetics : EJHG·Maria YakorevaKatrin Õunap
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Apr 27, 2018·Journal of Assisted Reproduction and Genetics·Victoria K CortessisKimberly D Siegmund
Apr 23, 2020·Cells·Linn Amanda SydingRadislav Sedlacek

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Methods Mentioned

BETA
Chromosomal aberrations
methylation aberrations

Software Mentioned

EUCID

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