Understanding
Okur-Chung Neurodevelopmental Syndrome
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.