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Updated: Feb 7, 2026

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS
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IRF2BPL Is Associated with Neurological Phenotypes.

Paul C Marcogliese1, Vandana Shashi2, Rebecca C Spillmann2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

American Journal of Human Genetics
|July 31, 2018
PubMed
Summary

Damaging variants in Interferon regulatory factor 2 binding protein-like (IRF2BPL) cause neurological disorders in humans and flies. Loss of IRF2BPL function leads to severe neurodevelopmental issues and neurodegeneration, highlighting its critical role in nervous system function.

Keywords:
C3HC4 RING fingerCG11138DrosophilaEAP1ataxiadevelopmental regressionhypotonianeurodegenerationpitsseizures

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a transcriptional regulator with an unknown biological function.
  • No Mendelian disease has been previously associated with IRF2BPL.

Purpose of the Study:

  • To investigate the role of IRF2BPL in human neurological disorders.
  • To explore the function of IRF2BPL in a model organism.

Main Methods:

  • Described seven individuals with heterozygous IRF2BPL variants and neurological symptoms.
  • Utilized bioinformatics and population genomics to analyze IRF2BPL variation.
  • Studied the IRF2BPL ortholog (pits) in Drosophila melanogaster, including RNA interference and loss-of-function experiments.

Main Results:

  • Seven individuals carrying damaging IRF2BPL variants presented with neurological symptoms, including neurodevelopmental regression, hypotonia, ataxia, and seizures.
  • Nonsense variants led to severe phenotypes, while missense variants resulted in milder global developmental delay and seizures.
  • Drosophila pits knockdown caused neurodegeneration, and complete loss was lethal, indicating a conserved role in neuronal function.
  • Human IRF2BPL variants mimicked the loss-of-function phenotypes observed in the fly model.

Conclusions:

  • IRF2BPL is essential for nervous system function in both humans and flies.
  • Loss-of-function variants in IRF2BPL cause a spectrum of neurological disorders.
  • IRF2BPL should be considered a candidate gene for unexplained neurological conditions.