U2AF2 variant in a patient with developmental delay,dysmorphic features,and epilepsy |
| |
| Authors: | Claire M. Kittock Mohamad Saifeddine Lisa Straight D. Isum Ward |
| |
| Affiliation: | 1. Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA;2. Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA Sanford Children's Specialty Clinic, Sioux Falls, South Dakota, USA |
| |
| Abstract: | Variants in the RNA binding protein (RBP) U2AF2 are hypothesized to cause a novel neurodevelopmental disorder. Here, we report a patient with a de novo missense variant in U2AF2, the second case report of the same variant, and third case report overall. The patient in this report has a history of global developmental delay, dysmorphic features, and epilepsy. This presentation is consistent with the previous case report with the same U2AF2 variant and with a recent case report of another U2AF2 variant, strengthening the evidence that variants in U2AF2 are the cause of a novel neurodevelopmental disorder. |
| |
| Keywords: | developmental delay epilepsy missense variant neurodevelopment RNA binding protein U2AF2 |
|
|
