학술논문
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3Ahaploinsufficiency
Document Type
Article
Author
Coenen-van der Spek, Jet; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael A.; Tedder, Matthew L.; Louie, Raymond J.; Fletcher, Robin S.; Moore, Hannah W.; Childers, Anna; Farrelly, Ellyn R.; Champaigne, Neena L.; Lyons, Michael J.; Everman, David B.; Rogers, R. Curtis; Skinner, Steven A.; Renck, Alicia; Matalon, Dena R.; Dills, Shelley K.; Monteleone, Berrin; Demirdas, Serwet; Dingemans, Alexander J.M.; Donker Kaat, Laura; Kolk, Sharon M.; Pfundt, Rolph; Rump, Patrick; Sadikovic, Bekim; Kleefstra, Tjitske; Butler, Kameryn M.
Source
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p63-75, 13p
Subject
Language
ISSN
10983600; 15300366
Abstract
Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3Agene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental disorders. In this study, we characterized a distinct DNA methylation epigenetic signature (episignature) distinguishing WITKOS from unaffected individuals as well as individuals with other neurodevelopmental disorders with episignatures and described 9 previously unpublished individuals with SIN3Ahaploinsufficiency.