Research Explained: A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature

Authors: H L Duan, J Peng, N Pang, S M Chen, J Xiong, S Q Guang, F Yin

Publication Date: May 2019

Link to article: https://pubmed.ncbi.nlm.nih.gov/31060130/

Research Explained Summary:

This publication is a case report of an individual with OCNDS that has the c.524A>G (p.D175G) variant in the CSNK2A1 gene and is the first report of OCNDS in the mainland of China. The patient was a 1 year and 8-month-old boy with symptoms that included microcephalus (small head), broad nasal bridge, micrognathia (small lower jaw), and hypotonia. The authors then summarized the clinical findings of OCNDS at the time of publication, which included mostly individuals with missense changes (a genetic alteration that occurs when a single base pair in DNA is substituted, resulting in a different amino acid being incorporated into a protein) in the CSNK2A1 gene, with the K198R change being the most common.