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IRF2BPL gene mutation: Expanding on neurologic phenotypes.

Emily Shelkowitz1, Jasleen K Singh2, Austin Larson1

  • 1Department of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, Colorado.

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|August 22, 2019
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Summary

Pathogenic variants in the IRF2BPL gene cause neurodevelopmental disorders and epilepsy. This study expands the known phenotype by reviewing additional patient cases, highlighting a wide range of associated symptoms.

Keywords:
IRF2BPL gene mutationdevelopmental regressionepilepsyintellectual disability

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Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Developmental Biology

Background:

  • IRF2BPL gene variants are a recently identified cause of neurodevelopmental disabilities and epilepsy.
  • Fewer than 20 cases were reported as of 2019, indicating a rare genetic condition.

Observation:

  • This article presents a new case of a patient with a pathogenic IRF2BPL variant, exhibiting infantile spasms evolving into drug-resistant epilepsy and epileptic encephalopathy consistent with Lennox-Gastaut syndrome.
  • The patient's phenotype, while severe, aligns with previously described cases.

Findings:

  • A comprehensive literature review reveals a broad spectrum of phenotypes associated with IRF2BPL gene variants.
  • Comorbidities observed in the patient and literature are discussed, broadening the understanding of the condition's clinical manifestations.

Implications:

  • Understanding the molecular role of IRF2BPL in the central nervous system is emerging.
  • Further research is needed to elucidate the gene's pathogenesis in other organ systems, which could inform patient management strategies.