About RNU2-2

Variants in RNU2-2 Identified as a Newly Recognized Cause of Severe Neurodevelopmental Disorder

The RNU2-2 gene, once thought to be unimportant, is turning out to be vital. This gene makes a tiny piece of RNA that helps with one of the body’s most essential processes—editing our genetic instructions. Recently, scientists discovered that small changes in RNU2-2 are linked to children with serious developmental delays, early epilepsy, and other neurological challenges. What was once overlooked is now recognized as a key piece of the puzzle in understanding rare brain disorders. While researchers are still uncovering exactly how these changes cause disease, this discovery provides a powerful new focus—and with it, the hope that one day it could guide us toward better answers and treatments.

Symptom Highlights

RNU2-2-related disorder affects early development and may include developmental delays, low muscle tone, seizures, and breathing or behavioral differences.