IRF2BPL gene mutation: Expanding on neurologic phenotypes. Issue 11 (20th August 2019)

• Record Type: Journal Article
• Authors: Shelkowitz, Emily; Singh, Jasleen K.; Larson, Austin; Elias, Ellen R.
• Is Part Of: American journal of medical genetics. Volume 179:Issue 11(2019)
• Page Start: 2263
• Page End: 2271
• Publication Date: 2019-08-20
• Subjects: developmental regression -- epilepsy -- intellectual disability -- IRF2BPL gene mutation; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61328
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.