Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

oleh: Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine, Kevin Strauss, Frank Provenzano, Yan Sun, Huixiang Zhu, Giuseppe P. Cortese, Francesco Brundu, Karlla W. Brigatti, Barbara Corneo, Bianca Migliori, Raju Tomer, Steven A. Kushner, Christoph Kellendonk, Jonathan A. Javitch, Bin Xu, Sander Markx

Format: Article
Diterbitkan: Nature Portfolio 2021-09-01

Deskripsi

Mutations in CNTNAP2 have been associated with a syndromic form of Autism Spectrum Disorder. Here the authors show that forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of ASD with a homozygous truncating mutation in CNTNAP2 displayed an increase in volume and total cell number, which is driven by abnormal cellular proliferation and neurogenesis.