Researchers Identify the Most Common Recessive Neurodevelopmental Disorder Ever Discovered (IMAGE)

The Mount Sinai Hospital / Mount Sinai School of Medicine

Researchers Identify the Most Common Recessive Neurodevelopmental Disorder Ever Discovered

Caption

Histogram of log-scale U2-2 RNA levels in unaffected individuals (grey). The superimposed green lines denote five affected individuals with recessive ReNU2 syndrome. The stark difference between affected and unaffected individuals enables accurate diagnostics and points to gene replacement as a possible therapy. 

Credit

Adapted from Greene et al., Nature Genetics 2026.

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