Missense mutation in the activation segment of the kinase CK2 models Okur-Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse
Jose Manuel Cruz Gamero, Demetra Ballardin, Barbara Lecis, Chun-Lei Zhang, Alexander Gast, Rebecca Piskorowski, Joachim Jose, Heike Rebholz · FENS Forum 2024
Exome sequencing has enabled the identification of causative genes of monogenic forms of autism, amongst them, in 2016, CSNK2A1, the gene encoding the catalytic subunit of the kinase CK2, linking this kinase to Okur-Chung Neurodevelopmental Syndrome (OCNDS), a newly described neurodevelopmental condition with many symptoms resembling those of autism spectrum disorder.Thus far, no preclinical model of this condition exists. Here we describe a knock-in (KI) mouse model that harbors the K198R mutation in the activation segment of the kinase. This site is a mutational hotspot, representing one-thi
ePoster · Neuroscience