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U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.

Claire M Kittock1,2, Mohamad Saifeddine1,3, Lisa Straight1,3

  • 1Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.

American Journal of Medical Genetics. Part A
|April 24, 2023
PubMed
Summary

Variants in the RNA binding protein U2AF2 (U2AF2) are linked to a new neurodevelopmental disorder. This report details a patient with a de novo U2AF2 variant, reinforcing its role in causing developmental delay, epilepsy, and distinct facial features.

Keywords:
RNA binding proteinU2AF2developmental delayepilepsymissense variantneurodevelopment

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • RNA binding proteins (RBPs) play crucial roles in gene regulation.
  • U2AF2 is essential for pre-mRNA splicing.
  • Genetic variants in RBPs are increasingly implicated in neurodevelopmental disorders.

Observation:

  • A patient presented with global developmental delay, dysmorphic features, and epilepsy.
  • This patient harbored a de novo missense variant in the U2AF2 gene.
  • This represents the second reported case with this specific U2AF2 variant.

Findings:

  • The patient's phenotype aligns with previously reported cases associated with U2AF2 variants.
  • This case, along with another recent report of a different U2AF2 variant, strengthens the etiological link.
  • Evidence suggests U2AF2 variants are causative of a novel neurodevelopmental disorder.

Implications:

  • U2AF2 is identified as a potential novel gene linked to neurodevelopmental disorders.
  • Further research into U2AF2 function can elucidate mechanisms of neurodevelopment.
  • Genetic testing for U2AF2 variants may aid in diagnosing unexplained neurodevelopmental conditions.