University of Bristol: Researchers identify the most common recessive neurodevelopmental disorder ever discovered
- 3 days ago
- 1 min read
The condition is caused by changes in a small noncoding gene called RNU2-2. It is estimated to affect thousands of individuals and accounts for about 10% of all recessive NDD cases with a known genetic cause.
This discovery was first made by researchers from Icahn School of Medicine at Mount Sinai in New York in collaboration with colleagues from Stanford University and the University of Bristol. Clinical and scientific collaborators from other institutions in the UK, the Netherlands, Belgium, and Italy provided valuable contributions to this research.
The team found that the disorder is caused by a near-complete absence of a molecule called U2-2 RNA, which is produced by the RNU2-2 gene. Children with the condition typically inherit one altered copy of the gene from each parent, although sometimes changes arise spontaneously by genetic mutation. While the parents are unaffected, the combined effect on both copies of the gene in their children leads to disrupted brain development in their child.
