Author:
Ballardin Demetra,Cruz-Gamero Jose M.,Bienvenu Thierry,Rebholz Heike
Abstract
In recent years, variants in the catalytic and regulatory subunits of the kinase CK2 have been found to underlie two different, yet symptomatically overlapping neurodevelopmental disorders, termed Okur-Chung neurodevelopmental syndrome (OCNDS) and Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). Both conditions are predominantly caused by de novo missense or nonsense mono-allelic variants. They are characterized by a generalized developmental delay, intellectual disability, behavioral problems (hyperactivity, repetitive movements and social interaction deficits), hypotonia, motricity and verbalization deficits. One of the main features of POBINDS is epilepsies, which are present with much lower prevalence in patients with OCNDS. While a role for CK2 in brain functioning and development is well acknowledged, these findings for the first time clearly link CK2 to defined brain disorders. Our review will bring together patient data for both syndromes, aiming to link symptoms with genotypes, and to rationalize the symptoms through known cellular functions of CK2 that have been identified in preclinical and biochemical contexts. We will also compare the symptomatology and elaborate the specificities that distinguish the two syndromes.
Subject
Biochemistry, Genetics and Molecular Biology (miscellaneous),Molecular Biology,Biochemistry
Reference131 articles.
1. Targeting CK2 for Cancer Therapy;Ahmad;Anti-Cancer Drugs,2005
2. Refining the Clinical Phenotype of Okur-Chung Neurodevelopmental Syndrome;Akahira-Azuma;Hum. Genome,2018
3. Protein Kinase CK2: an Enzyme with Multiple Substrates and a Puzzling Regulation;Allende;FASEB j.,1995
4. Phosphorylation of the Acidic Domain of Mdm2 by Protein Kinase CK2;Allende-Vega;Mol. Cell. Biochem.,2005
5. Mapping of the Interaction Sites of the Growth Suppressor Protein P53 with the Regulatory Beta-Subunit of Protein Kinase CK2;Appel;Oncogene,1995
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