Article
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Human genetics - 1 Jan 2015
Kuechler Alma, Willemsen Marjolein H, Albrecht Beate, Bacino Carlos A, Bartholomew Dennis W, van Bokhoven Hans, van den Boogaard Marie Jose H, Bramswig Nuria, Büttner Christian, Cremer Kirsten, Czeschik Johanna Christina, Engels Hartmut, van Gassen Koen, Graf Elisabeth, van Haelst Mieke, He Weimin, Hogue Jacob S, Kempers Marlies, Koolen David, Monroe Glen, de Munnik Sonja, Pastore Matthew, Reis André, Reuter Miriam S, Tegay David H, Veltman Joris, Visser Gepke, van Hasselt Peter, Smeets Eric E J, Vissers Lisenka, Wieland Thomas, Wissink Willemijn, Yntema Helger, Zink Alexander Michael, Strom Tim M, Lüdecke Hermann-Josef, Kleefstra Tjitske, Wieczorek Dagmar
Abstract excerpt
Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were described for the first time in four individuals with intellectual disability (ID), microcephaly, limited speech and (progressive) spasticity, and functional consequences of CTNNB1 deficiency were characterized in a mouse model. Beta-catenin is a key downstream component of the canonical Wnt signaling pathway. Somatic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.