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.

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

Santangelo, Andrea
;
Bravin, Francesca
;
Peroni, Diego
;
Battini, Roberta
;
2022-01-01

Abstract

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.
2022
Orsini, Alessandro; Santangelo, Andrea; Bravin, Francesca; Bonuccelli, Alice; Peroni, Diego; Battini, Roberta; Foiadelli, Thomas; Bertini, Veronica; Valetto, Angelo; Iacomino, Michele; Nigro, Vincenzo; Torella, Anna Laura; Scala, Marcello; Capra, Valeria; Vari, Maria Stella; Fetta, Anna; Di Pisa, Veronica; Montanari, Francesca; Epifanio, Roberta; Bonanni, Paolo; Giorda, Roberto; Operto, Francesca; Pastorino, Grazia; Sarigecili, Esra; Sardaroglu, Esra; Okuyaz, Cetin; Bozdogan, Sevgan; Musante, Luciana; Faletra, Flavio; Zanus, Caterina; Ferretti, Alessandro; Vigevano, Federico; Striano, Pasquale; Cordelli, Duccio Maria
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/1157833
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