Overview
- The Nature Genetics paper, published Monday, describes a recessive condition called ReNU2 syndrome that stems from an almost complete loss of U2-2 RNA made by the noncoding RNU2-2 gene.
- Researchers have identified 84 people with the disorder so far, and they estimate up to 1 in 100 people carry a faulty copy of RNU2-2 and about 1 in 40,000 are affected, including five-year-old Ava Begley in Australia.
- Children typically show low muscle tone, major developmental delay, limited speech, and seizures or epilepsy, with severity that ranges from mild learning issues to feeding and breathing problems in the most severe cases.
- Using the UK National Genomics Research Library, the team scanned rare variants across more than 41,000 noncoding genes in 14,805 neurodevelopmental cases versus 52,861 controls, then confirmed a sharp drop in U2-2 RNA by blood RNA sequencing.
- Mount Sinai has begun enrolling families into the INDEED natural history study and a ReNU2 Syndrome Foundation has launched, as researchers explore future gene-replacement strategies because no specific treatment exists yet.