How a Single Gene Mutation is Rewriting the Book on Intellectual Disability
1st June 2024
Researchers have discovered a neurodevelopmental disorder linked to mutations in the RNU4-2 gene, a non-coding gene, which could impact tens of thousands globally. This finding enhances our understanding of genetic factors behind such disorders and paves the way for improved diagnostics.
Scientists have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine, was conducted by researchers at the Icahn School of Medicine at Mount Sinai in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK.
The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.
UPDATE: Mutations in a non-coding gene associated with intellectual disability (Ars Technica)