IRF2BPL: A new genotype for progressive myoclonus epilepsies

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Cinzia Costa1, Karen L Oliver2,3, Carmen Calvello1

  • 1Neurology Clinic, Department of Medicine and Surgery, University of Perugia-S. Maria Della Misericordia Hospital, Perugia, Italy.

Epilepsia
|February 22, 2023
PubMed

Insights

Genetic variants in the IRF2BPL gene are linked to progressive myoclonus epilepsies (PMEs). Whole-exome sequencing identified these variants, expanding the genetic causes of PME and related neurological disorders.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Progressive myoclonus epilepsies (PMEs) are rare neurodegenerative disorders with a complex genetic basis.
  • An etiological diagnosis is achieved in approximately 80% of PME patients, highlighting the need for advanced genetic studies in undiagnosed cases.

Purpose of the Study:

  • To investigate the genetic underpinnings of PME in undiagnosed patients using whole-exome sequencing.
  • To identify novel gene variants associated with PME and explore genotype-phenotype correlations.

Main Methods:

  • Whole-exome sequencing (WES) was employed to analyze the genomes of two unrelated patients with PME.
  • Literature review was conducted to identify additional cases with IRF2BPL variants and myoclonic seizures.

Main Results:

  • Pathogenic truncating variants in the IRF2BPL gene were identified in two PME patients.
  • Thirteen additional patients with myoclonic seizures and IRF2BPL variants were found in the literature, though no clear genotype-phenotype correlation was observed.

Conclusions:

  • The IRF2BPL gene should be considered in the genetic testing panel for patients diagnosed with PME.
  • IRF2BPL variants are implicated in PME, expanding its known spectrum of neurological disorders beyond developmental delay and movement disorders.
Keywords:
IRF2BPLataxianeurodevelopmental disorderprogressive myoclonic epilepsywhole-exome sequencing

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