A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

• Published in: European journal of human genetics : EJHG Vol. 32; no. 3; pp. 324 - 332
• Main Authors: Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.03.2024; Springer International Publishing
• Subjects: Abnormalities, Multiple - genetics; Acetylation; Chromosome Deletion; Chromosomes, Human, Pair 17; CpG islands; DNA Methylation; Epigenetics; Fibroblasts; Genes, Regulator; Histones; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Neurodevelopmental disorders

Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have ide...