Research Explained: Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome

Authors: Ruohao Wu, Wenting Tang, Liyang Liang, Xiaojuan Li, Nengtai Ouyang, Zhe Meng

Publication Date: June 10, 2020

Link to article: https://rs.yiigle.com/cmaid/1202672

Research Explained Summary:

This publication is a case study on an individual with OCNDS that has the c.149A>G (p. Tyr50Cys) variant in the CSNK2A1 gene. At the time of publication, this variant had not yet been reported. Research showed that this specific part of the gene has been highly conserved across species and that this DNA change was predicted change of the original spatial structure of CK2α protein and the loss of the original protein function.