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Title: IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Austin Authors: Costa, Cinzia;Oliver, Karen L;Calvello, Carmen;Cameron, Jillian M ;Imperatore, Valentina;Tonelli, Laura;Colavito, Davide;Franceschetti, Silvana;Canafoglia, Laura;Berkovic, Samuel F ;Prontera, Paolo
Affiliation: Neurology Clinic, Department of Medicine and Surgery, University of Perugia-S. Maria della Misericordia Hospital, Perugia, Italy.
Epilepsy Research Centre
Neurology Clinic, Department of Medicine and Surgery, University of Perugia-S. Maria della Misericordia Hospital, Perugia, Italy.
Medicine (University of Melbourne)
Medical Genetics Unit, Maternal-Infantile Department, S. Maria della Misericordia Hospital, Perugia, Italy.
Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121, Ferrara, Italy.
R&I Genetics SRL, 35127, Padua, Italy.
Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Issue Date: Aug-2023
Date: 2023
Publication information: Epilepsia 2023-08; 64(8)
Abstract: The Progressive Myoclonus Epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of PME patients, and genome wide molecular studies on remaining, well selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two unrelated patients presenting with PME. IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently missense and nonsense mutations in IRF2BPL were found in patients presenting with developmental delay and epileptic encephalopathy, ataxia, movement disorders, but none with clear PME. We identified 13 other patients in the literature with myoclonic seizures and IRF2BPL variants. There was no clear genotype-phenotype correlation. With the description of these cases, the IRF2BPL gene should be considered in the list of genes to be tested in the presence of PME, in addition to patients with neurodevelopmental or movement disorders.
DOI: 10.1111/epi.17557
ORCID: 0000-0001-5188-6153
Journal: Epilepsia
PubMed URL: 36810721
ISSN: 1528-1167
Type: Journal Article
Subjects: Ataxia
Neurodevelopmental disorder
Progressive Myoclonic Epilepsy
Whole-Exome Sequencing
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