Nature Communications (Sep 2021)
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
- 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
Affiliations
- Job O. de Jong
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Ceyda Llapashtica
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Matthieu Genestine
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Kevin Strauss
- Clinic for Special Children
- Frank Provenzano
- Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Department of Neurology, Columbia University
- Yan Sun
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Huixiang Zhu
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Giuseppe P. Cortese
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Francesco Brundu
- Department of Systems Biology, Columbia University
- Karlla W. Brigatti
- Clinic for Special Children
- Barbara Corneo
- Stem Cell Core Facility, Columbia University
- Bianca Migliori
- Tech4Health and Neuroscience Institutes, NYU Langone Health
- Raju Tomer
- Department of Biological Sciences, Columbia University
- Steven A. Kushner
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Christoph Kellendonk
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Jonathan A. Javitch
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Bin Xu
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- Sander Markx
- Department of Psychiatry, Vagelos College of Physicians & Surgeons, Columbia University
- DOI
- https://doi.org/10.1038/s41467-021-24358-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 14
Abstract
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.
