Recognition. There are moments when a new disease gene is reported and immediately feels important. And then there are moments when the same gene appears in three independent papers in the same issue of Nature Genetics. That is what happened with RNU2-2. In three parallel studies, independent groups essentially came to the same conclusion: biallelic variants in RNU2-2 are an unusually frequent cause of neurodevelopmental disorders and typically present as developmental and epileptic encephalopathies (DEEs). Taken together, these papers expand the spliceosome story that began with RNU4-2 in 2024. Here is what I learned about the recently identified recessive RNU2-2 disorders.
Tag Archives: RNU4-2
The Spliceosome Connection – RNU4-2 in neurodevelopmental disorders
An RNA world. Last week, a simple bar graph caught my attention and prompted me to write my first blog post in over a year. I came across a figure comparing the frequency of de novo variants in RNU4-2 to other genes causing neurodevelopmental disorders. The data suggested that the recently identified ReNU syndrome may be one of the most common genetic neurodevelopmental disorders with a high frequency of seizures. This led me to take a closer look at a group of conditions that have emerged over the last few years: disorders of spliceosome function, providing some interesting insight into the dynamics of gene discovery in the post-genomic era.