New ReNU2 syndrome linked to recessive RNU2-2 mutation explains delays
Technology
A newly discovered condition called ReNU2 syndrome is helping explain why some children face developmental delays, speech issues, and weak muscles.
It's linked to a rare gene mutation in the RNU2-2 gene that has to be inherited from both parents, and surprisingly, it accounts for about 10% of recessive neurodevelopmental disorder cases with a known genetic cause.
Researchers analyzed over 110,000 genomes
Researchers analyzed over 110,000 genomes using advanced technology to pinpoint the cause.
Geneticist Daniel Greene says this gives families much-needed answers about their child's struggles.
Neuroscientist Cornelius Gross highlighted that discoveries like this show how important noncoding genes are for our health, and that there's still a lot more to learn in this area.