Article
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2023
van Jaarsveld Richard H, Reilly Jack, Cornips Marie-Claire, Hadders Michael A, Agolini Emanuele, Ahimaz Priyanka, Anyane-Yeboa Kwame, Bellanger Severine Audebert, van Binsbergen Ellen, van den Boogaard Marie-Jose, Brischoux-Boucher Elise, Caylor Raymond C, Ciolfi Andrea, van Essen Ton A J, Fontana Paolo, Hopman Saskia, Iascone Maria, Javier Margaret M, Kamsteeg Erik-Jan, Kerkhof Jennifer, Kido Jun, Kim Hyung-Goo, Kleefstra Tjitske, Lonardo Fortunato, Lai Abbe, Lev Dorit, Levy Michael A, Lewis M E Suzanne, Lichty Angie, Mannens Marcel M A M, Matsumoto Naomichi, Maya Idit, McConkey Haley, Megarbane Andre, Michaud Vincent, Miele Evelina, Niceta Marcello, Novelli Antonio, Onesimo Roberta, Pfundt Rolph, Popp Bernt, Prijoles Eloise, Relator Raissa, Redon Sylvia, Rots Dmitrijs, Rouault Karen, Saida Ken, Schieving Jolanda, Tartaglia Marco, Tenconi Romano, Uguen Kevin, Verbeek Nienke, Walsh Christopher A, Yosovich Keren, Yuskaitis Christopher J, Zampino Giuseppe, Sadikovic Bekim, Alders Mariëlle, Oegema Renske
Abstract excerpt
PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD. METHODS: Through international collaborations, we collected data on individuals with...
Topics
- Mice
- Animals
- Humans