# U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

**Authors:** Shiqin Huang, Mei Li, Hai Yuan, Yunli Han, Xiaolan Chen, Yunxuan Su, Xing Li

PMC · DOI: 10.1002/ccr3.71182 · 2025-10-12

## TL;DR

A genetic variant in U2AF2 is linked to epilepsy and developmental issues, suggesting a new genetic disorder affecting the brain and body.

## Contribution

Identifies a novel U2AF2 missense variant associated with systemic and neurological symptoms.

## Key findings

- Recurrent U2AF2 c.445C>T variant found in two cases with systemic dysmorphism and epilepsy.
- Suggests a novel spliceosomal gene-brain disorder connection.
- Highlights the need for U2AF2 screening in unexplained neurodevelopmental cases.

## Abstract

Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.

## Linked entities

- **Genes:** U2AF2 (U2 small nuclear RNA auxiliary factor 2) [NCBI Gene 11338]
- **Diseases:** epilepsy (MONDO:0005027)

## Full-text entities

- **Genes:** U2AF2 (U2 small nuclear RNA auxiliary factor 2) [NCBI Gene 11338] {aka DEVDFB, U2AF65}
- **Diseases:** Epilepsy (MESH:D004827), Systemic Dysmorphism (MESH:D057215), neurodevelopmental regression (MESH:C537770), brain disorder (MESH:D001927)
- **Mutations:** c.445C>T

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12515583/full.md

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Source: https://tomesphere.com/paper/PMC12515583