The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with β-catenin mutations enabled us to investigate the consequences of β-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (
Valter Tucci, Tjitske Kleefstra, Andrea Hardy, Ines Heise, Silvia Maggi, Marjolein H. Willemsen, Helen Hilton, Chris Esapa, Michelle Simon, Maria-Teresa Buenavista, Liam J. McGuffin, Lucie Vizor, Luca Dodero, Sotirios Tsaftaris, Rosario Romero, Willy N. Nillesen, Lisenka E.L.M. Vissers, Marlies J. Kempers, Anneke T. Vulto-van Silfhout, Zafar Iqbal, Marta Orlando, Alessandro Maccione, Glenda Lassi, Pasqualina Farisello, Andrea Contestabile, Federico Tinarelli, Thierry Nieus, Andrea Raimondi, Barbara Greco, Daniela Cantatore, Laura Gasparini, Luca Berdondini, Angelo Bifone, Alessandro Gozzi, Sara Wells, Patrick M. Nolan
Craniofacial anomalies associated with β-catenin mutations in humans and mice.