Schematic showing the structures of U4 and U6 RNAs, and the interactions between them. Mutations in the highlighted regions of U4 cause a neurodevelopmental disorder that affects tens of thousands.
Image credit: Lab of Ernest Turro, PhD, at Icahn Mount Sinai.
Image credit: Lab of Ernest Turro, PhD, at Icahn Mount Sinai.
Researchers at the Icahn School of Medicine at Mount Sinai and others 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 done 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.