IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Heterozygous loss of function variants in the IRF2BPL are a newly described cause of neurodevelopmental disabilities and epilepsy. As of 2019, fewer than 20 patients have been described in the published literature. This article reports an additional case of a patient with a pathogenic IRF2BPL variant and offers a comprehensive review of the published cases of individuals with IRF2BPL variants, in order to help expand the phenotype. The patient has a history of infantile spasms evolving into drug-resistant epilepsy with underlying epileptic encephalopathy consistent with Lennox-Gastaut syndrome. While at the extreme end of the spectrum, his phenotype is consistent with those previously described. Our literature review highlights the wide range of phenotypes exhibited by those with diseases related to IRF2BPL gene variants. This article also briefly discusses other comorbidities seen in the patient and those previously reported. While the molecular underpinnings of the role of IRF2BPL gene in the central nervous system are newly established, the specifics of its effects elsewhere have yet to be delineated. Furthermore, its pathogenesis in other organ systems is not yet understood and could be of importance from a management perspective.
['Shelkowitz|Emily|E|0000-0003-1911-1846', 'Singh|Jasleen K|JK|', 'Larson|Austin|A|', 'Elias|Ellen R|ER|']
D001921:Brain D002352:Carrier Proteins D002648:Child D019066:Facies D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D006801:Humans D008297:Male D009154:Mutation D065886:Neurodevelopmental Disorders D009687:Nuclear Proteins D010641:Phenotype
IRF2BPL gene mutation epilepsy developmental regression intellectual disability