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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
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.
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.
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