Genes (Jan 2022)
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
- Alessandro Orsini,
- Andrea Santangelo,
- Francesca Bravin,
- Alice Bonuccelli,
- Diego Peroni,
- Roberta Battini,
- Thomas Foiadelli,
- Veronica Bertini,
- Angelo Valetto,
- Michele Iacomino,
- Vincenzo Nigro,
- Anna Laura Torella,
- Marcello Scala,
- Valeria Capra,
- Maria Stella Vari,
- Anna Fetta,
- Veronica Di Pisa,
- Francesca Montanari,
- Roberta Epifanio,
- Paolo Bonanni,
- Roberto Giorda,
- Francesca Operto,
- Grazia Pastorino,
- Esra Sarigecili,
- Esra Sardaroglu,
- Cetin Okuyaz,
- Sevgan Bozdogan,
- Luciana Musante,
- Flavio Faletra,
- Caterina Zanus,
- Alessandro Ferretti,
- Federico Vigevano,
- Pasquale Striano,
- Duccio Maria Cordelli
Affiliations
- Alessandro Orsini
- Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Andrea Santangelo
- Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Francesca Bravin
- Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Alice Bonuccelli
- Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Diego Peroni
- Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Roberta Battini
- Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy
- Thomas Foiadelli
- Pediatric Clinic, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, IRCCS Policlinico San Matteo Foundation—University of Pavia, 27100 Pavia, Italy
- Veronica Bertini
- Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Angelo Valetto
- Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
- Michele Iacomino
- Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy
- Vincenzo Nigro
- Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy
- Anna Laura Torella
- Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy
- Marcello Scala
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
- Valeria Capra
- Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy
- Maria Stella Vari
- Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy
- Anna Fetta
- IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’età Pediatrica, 40138 Bologna, Italy
- Veronica Di Pisa
- IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’età Pediatrica, 40138 Bologna, Italy
- Francesca Montanari
- U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy
- Roberta Epifanio
- Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, Italy
- Paolo Bonanni
- Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea Scientific Institute, 31015 Conegliano, Italy
- Roberto Giorda
- Molecular Biology Laboratory, IRCCS E. Medea Scientific Institute, 23842 Bosisio Parini, Italy
- Francesca Operto
- Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy
- Grazia Pastorino
- Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy
- Esra Sarigecili
- Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey
- Esra Sardaroglu
- Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey
- Cetin Okuyaz
- Department of Pediatric Neurology, Mersin University, Mersin 33110, Turkey
- Sevgan Bozdogan
- Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana 01330, Turkey
- Luciana Musante
- Medical Genetics Unit, Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, 34137 Trieste, Italy
- Flavio Faletra
- Medical Genetics Unit, Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, 34137 Trieste, Italy
- Caterina Zanus
- Child Neuropsychiatry Unit, Institute for Maternal and Child Health—IRCCS "Burlo Garofolo", 34137 Trieste, Italy
- Alessandro Ferretti
- Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
- Federico Vigevano
- Neuroscience Department, Bambino Gesù Children’s Hospital, IRCCS, Full Member of European Reference Network EPICARE, 00165 Rome, Italy
- Pasquale Striano
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
- Duccio Maria Cordelli
- IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’età Pediatrica, 40138 Bologna, Italy
- DOI
- https://doi.org/10.3390/genes13020276
- Journal volume & issue
-
Vol. 13,
no. 2
p. 276
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.
Keywords