De Novo, Post-Zygotic, Inter-Tissue Mosaicism of Cell Autonomous ADNP Mutations in Autistic Individuals: Restricted Environmental Contribution
Mohiuddin Mohiuddin, Zlatko Marušić, Mirna Aničić, Anke Van Dijck, Elisa Cappuyns, Ludovico Rizzuti, Alessandro Vitriolo, Gal Hacohen-Kleiman, Iris Grigg, Giuseppe Testa, Illana Gozes, R. Frank Kooy, Christopher E. Pearson
The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.
bioRxiv · Jun 21, 2022 · PreprintGenetics