INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability
Nelli Jalkanen, Kalevi Trontti, Antto J. Norppa, Elisa Rahikkala, Panagiotis Lilis, Pau Puigdevall, Leena Ivancic, Nea Niemimaa, Veikko Vuokila, Nour Assaf, Lea Urpa, Mitja Kurki, Eijä Hämäläinen, Outi Kuismin, Aarno V. Palotie, , Olli P. H. Pietiläinen
The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.
bioRxiv · Jul 17, 2026 · PreprintGenetics