Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin? - Archive ouverte HAL Access content directly
Journal Articles Frontiers in Molecular Biosciences Year : 2022

Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?

(1, 2, 3) , (1) , (1, 4) , (1, 2, 3, 5)
1
2
3
4
5

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.
Fichier principal
Vignette du fichier
Ballardin et al. Front. Mol. Biosci. 2022.pdf (759.33 Ko) Télécharger le fichier
Origin : Publisher files allowed on an open archive

Dates and versions

inserm-03684127 , version 1 (01-06-2022)

Identifiers

Cite

Demetra Ballardin, Jose Cruz-Gamero, Thierry Bienvenu, Heike Rebholz. Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?. Frontiers in Molecular Biosciences, 2022, 9, Online ahead of print. ⟨10.3389/fmolb.2022.850559⟩. ⟨inserm-03684127⟩
36 View
38 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More