Researchers have discovered a new neurodevelopmental disorder linked to a mutation in the RNU2-2 gene. The condition, named ReNU2 syndrome, results from a lack of the U2-2 RNA molecule and is inherited recessively.
Affected individuals may experience developmental delays, limited speech, low muscle tone, and movement issues. Some may also face epilepsy or respiratory problems.
The team analyzed over 110,000 genomes and found that ReNU2 syndrome could account for about 10% of known recessive neurodevelopmental cases. This discovery offers families clearer diagnoses and opens possibilities for future gene therapies.
The findings were published in Nature Genetics.
