Researchers Identify the Most Common Recessive Neurodevelopmental Disorder Ever Discovered

Researchers identified biallelic mutations in the noncoding gene RNU2-2 as the cause of a newly recognized recessive neurodevelopmental disorder.

The condition, linked to U2-2 RNA disruption, can cause developmental delay, autism traits, epilepsy, and a wide range of severity.

Large-scale genome analysis and RNA studies helped uncover cases that had previously gone undiagnosed.

The discovery, reported by teams including Mount Sinai and Stanford, may explain a substantial share of recessive neurodevelopmental disorders and guide future diagnosis and therapy.