Article
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Nature genetics - 1 Aug 2016
Witteveen Josefine S, Willemsen Marjolein H, Dombroski Thaís C D, van Bakel Nick H M, Nillesen Willy M, van Hulten Josephus A, Jansen Eric J R, Verkaik Dave, Veenstra-Knol Hermine E, van Ravenswaaij-Arts Conny M A, Wassink-Ruiter Jolien S Klein, Vincent Marie, David Albert, Le Caignec Cedric, Schieving Jolanda, Gilissen Christian, Foulds Nicola, Rump Patrick, Strom Tim, Cremer Kirsten, Zink Alexander M, Engels Hartmut, de Munnik Sonja A, Visser Jasper E, Brunner Han G, Martens Gerard J M, Pfundt Rolph, Kleefstra Tjitske, Kolk Sharon M
Abstract excerpt
Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.