Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature

Bonanni, Paolo; Baggio, Martina; Marco, Duma Gian; Negrin, Susanna; Danieli, Alberto; Giorda, Roberto

doi:10.1016/j.seizure.2021.10.019

Cited by 7 publications

(8 citation statements)

References 10 publications

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“…A total of nine individuals with CSNK2B variants were investigated in this study. One patient has been reported elsewhere [ 11 ]. Concerning the previously published case, we collected additional data from the follow-up, therapy, and epileptic phenotype.…”

Section: Resultsmentioning

confidence: 99%

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Orsini

Santangelo

Bravin

et al. 2022

Genes

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Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy and intellectual disability. Despite the lack of cases described, it appears that POBINDS could manifest with a wide range of phenotypes, possibly related to the different mutations of CSNK2B. Methods: Our multicentric, retrospective study recruited nine patients with POBINDS, detected using next-generation sequencing panels and whole-exome sequencing. Clinical, laboratory, and neuroimaging data were reported for each patient in order to assess the severity of phenotype, and eventually, a correlation with the type of CSNK2B mutation. Results: We reported nine unrelated patients with heterozygous de novo mutations of the CSNK2B gene. All cases presented epilepsy, and eight patients were associated with a different degree of intellectual disability. Other features detected included endocrinological and vascular abnormalities and dysmorphisms. Genetic analysis revealed six new variants of CSNK2B that have not been reported previously. Conclusion: Although it was not possible to assess a genotype–phenotype correlation in our patients, our research further expands the phenotype spectrum of POBINDS patients, identifying new mutations occurring in the CSNK2B gene.

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Section: Resultsmentioning

confidence: 99%

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Orsini

Santangelo

Bravin

et al. 2022

Genes

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“…In particular mutations residing in the Gly-rich loop were more likely to cause the widest range of phenotypes ( Wu et al, 2021 ). For POBINDS, Bonanni et al very recently reviewed the available literature, where they correlate the neurodevelopmental abnormalities to epilepsy severity and highlight the heterogeneity of the clinical phenotypes that have been associated with the CSNK2B gene ( Bonanni et al, 2021 ). A recent article has reviewed both diseases ( Ballardin et al, 2022 ).…”

Section: Discussionmentioning

confidence: 99%

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases

Unni

Friend

Weinberg

et al. 2022

Front. Mol. Biosci.

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Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) were recently identified as rare neurodevelopmental disorders. OCNDS and POBINDS are associated with heterozygous mutations in the CSNK2A1 and CSNK2B genes which encode CK2α, a serine/threonine protein kinase, and CK2β, a regulatory protein, respectively, which together can form a tetrameric enzyme called protein kinase CK2. A challenge in OCNDS and POBINDS is to understand the genetic basis of these diseases and the effect of the various CK2⍺ and CK2β mutations. In this study we have collected all variants available to date in CSNK2A1 and CSNK2B, and identified hotspots. We have investigated CK2⍺ and CK2β missense mutations through prediction programs which consider the evolutionary conservation, functionality and structure or these two proteins, compared these results with published experimental data on CK2α and CK2β mutants, and suggested prediction programs that could help predict changes in functionality of CK2α mutants. We also investigated the potential effect of CK2α and CK2β mutations on the 3D structure of the proteins and in their binding to each other. These results indicate that there are functional and structural consequences of mutation of CK2α and CK2β, and provide a rationale for further study of OCNDS and POBINDS-associated mutations. These data contribute to understanding the genetic and functional basis of these diseases, which is needed to identify their underlying mechanisms.

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“…For more details, Supplementary Table S2 . Information derived from ( Sakaguchi et al, 2017 ; Li et al, 2019 ; Nakashima et al, 2019 ; Bonanni et al, 2021 ; Ernst et al, 2021 ; Wilke et al, 2022 ).…”

Section: Variants In Functional Domainsmentioning

confidence: 99%

“…Shortly after the first report of OCNDS, Poirier et al linked variants of the regulatory subunit of CK2 ( CSNK2B ) to a neurodevelopmental disorder characterized by early-onset seizures, mainly generalized tonic-clonic seizures (GTCS), and ID, growth retardation and other clinical features ( Poirier et al, 2017 ; OMIM #618732). This syndrome, linked to the CSNK2B gene located on chromosome 6 (6p21.33), now termed the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS), has been described in 51 patients ( Sakaguchi et al, 2017 ; Li et al, 2019 ; Nakashima et al, 2019 ; Bonanni et al, 2021 ; Ernst et al, 2021 ; Wilke et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

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

Ballardin

Cruz-Gamero

Bienvenu

et al. 2022

Front. Mol. Biosci.

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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.

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Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature

Cited by 7 publications

References 10 publications

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases

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

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