Overview
- The Nature Genetics study, published Monday, describes a previously unrecognized neurodevelopmental disorder caused by biallelic variants in the noncoding gene RNU2-2.
- Patient RNA testing showed a near-complete loss of the U2-2 RNA molecule, which the authors link to early-onset epilepsy and broad developmental delays.
- Researchers estimate the condition affects thousands in the United States, with roughly 1 in 40,000 people living with it and as many as 1 in 100 carrying a single faulty copy.
- Clinicians have identified 84 affected individuals so far, and the recessive inheritance means two carrier parents face a 1 in 4 chance of having an affected child in each pregnancy.
- The team is enrolling families in Mount Sinai’s INDEED study and connecting parents through the ReNU2 Syndrome Foundation, after large genome datasets in the UK and abroad enabled the discovery and pointed to future gene-replacement approaches.