Article
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
The Journal of clinical investigation - 1 Apr 2014
Tucci Valter, Kleefstra Tjitske, Hardy Andrea, Heise Ines, Maggi Silvia, Willemsen Marjolein H, Hilton Helen, Esapa Chris, Simon Michelle, Buenavista Maria-Teresa, McGuffin Liam J, Vizor Lucie, Dodero Luca, Tsaftaris Sotirios, Romero Rosario, Nillesen Willy N, Vissers Lisenka E L M, Kempers Marlies J, Vulto-van Silfhout Anneke T, Iqbal Zafar, Orlando Marta, Maccione Alessandro, Lassi Glenda, Farisello Pasqualina, Contestabile Andrea, Tinarelli Federico, Nieus Thierry, Raimondi Andrea, Greco Barbara, Cantatore Daniela, Gasparini Laura, Berdondini Luca, Bifone Angelo, Gozzi Alessandro, Wells Sara, Nolan Patrick M
Abstract excerpt
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,...
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