Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

• Published in: Clinical epigenetics Vol. 14; no. 1; p. 41
• Main Authors: Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R, Tümer, Zeynep
• Format: Journal Article
• Language: English
• Published: Germany BioMed Central Ltd 16.03.2022; BioMed Central
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Beckwith-Wiedemann Syndrome - genetics; Book publishing; CCAAT-Enhancer-Binding Proteins - genetics; Diabetes; DNA Methylation; Female; Genetic disorders; Genetic research; Genomic Imprinting; Humans; Maternal Inheritance; Medical colleges; Methylation; Pregnancy; Silver-Russell Syndrome - diagnosis; Silver-Russell Syndrome - genetics; Ubiquitin-Protein Ligases - genetics; Imprinting disorders; Silver–Russell syndrome spectrum; Differentially methylated regions; Uniparental disomy; Beckwith–Wiedemann syndrome spectrum; Epimutations; Growth disturbances; Loss of methylation; Transient neonatal diabetes mellitus; Gain of methylation; Multi locus imprinting disturbance

Imprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth and metabolic...