New Genetic Mutation Identified as Cause of Intellectual Disability

Discovery in non-coding gene RNU4-2 could explain tens of thousands of cases previously undiagnosed.

Mutations in the RNU4-2 gene disrupt RNA splicing, leading to developmental issues.
The condition affects up to 1 in 20,000 young people, with symptoms including seizures and motor delays.
The findings highlight the importance of whole-genome sequencing in uncovering genetic disorders.
Researchers believe the mutations are spontaneous and not inherited.
The study opens pathways for more accurate diagnoses and potential future treatments.