| المساهمون: |
Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thoma, 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 |
| الوصف: |
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. |
